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RAB32
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‎notebooks/RAB32/RAB32_PARK26_individuals.json‎

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‎notebooks/RAB32/phenopackets/PMID_38614108_CAN1_III_2.json‎

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{
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"id": "PMID_38614108_CAN1_III_2",
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"subject": {
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"id": "CAN1 III-2",
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"timeAtLastEncounter": {
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"age": {
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"iso8601duration": "P70Y"
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}
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},
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"sex": "MALE"
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},
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"phenotypicFeatures": [
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{
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"type": {
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"id": "HP:0002172",
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"label": "Postural instability"
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},
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"onset": {
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}
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}
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{
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"type": {
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"id": "HP:0002304",
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"label": "Akinesia"
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}
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},
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{
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"type": {
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"id": "HP:0002548",
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"label": "Parkinsonism with favorable response to dopaminergic medication"
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}
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},
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{
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"type": {
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"id": "HP:0002312",
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"label": "Clumsiness"
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"label": "Cognitive impairment"
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{
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"label": "Rigidity"
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"interpretations": [
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"id": "DCymQAPT1zHn52DluN72v4CS",
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"progressStatus": "SOLVED",
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"id": "OMIM:620923",
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"label": "Parkinson disease 26, autosomal dominant, susceptibility to"
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"genomicInterpretations": [
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"subjectOrBiosampleId": "CAN1 III-2",
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"id": "c213CtoG_RAB32_NM_006834v5",
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"value": "NC_000006.12:g.146544084C>G"
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"value": "NP_006825.1:p.(Ser71Arg)"
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"phenopacketSchemaVersion": "2.0.2",
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"externalReferences": [
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{
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"id": "PMID:38614108",
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"description": "RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses."
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}
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}

‎notebooks/RAB32/phenopackets/PMID_38614108_CAN1_III_3.json‎

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{
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"id": "PMID_38614108_CAN1_III_3",
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"subject": {
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"id": "CAN1 III-3",
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"timeAtLastEncounter": {
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"age": {
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"iso8601duration": "P66Y"
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}
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},
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"sex": "FEMALE"
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},
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"phenotypicFeatures": [
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{
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"type": {
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"id": "HP:0002548",
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"label": "Parkinsonism with favorable response to dopaminergic medication"
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}
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},
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{
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"type": {
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"label": "Upper limb pain"
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}

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