Posterior column ataxia-retinitis pigmentosa syndrome

id: posterior-column-ataxia-retinitis-pigmentosa-syndrome-260-14724894
title: Posterior column ataxia-retinitis pigmentosa syndrome
text: Posterior column ataxia-retinitis pigmentosa syndrome (PCARP) is an autosomal recessive genetic disorder of the human eye, attributed to mutation of a gene originally dubbed AXPC1 which was identified as a mutation in the FLCVR1 gene. Generally rare, a Pennsylvania Mennonite variant has been estimated to have a population allele prevalence close to 1% due to founder effects.
brand slug: wiki
category slug: encyclopedia
description:
original url: https://en.wikipedia.org/wiki/Posterior_column_ataxia-retinitis_pigmentosa_syndrome
date created:
date modified: 2024-04-08T21:42:28Z
main entity: {"identifier":"Q113245113","url":"https://www.wikidata.org/entity/Q113245113"}
image:
fields total: 13
integrity: 13

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