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Article

A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.

Advances in experimental medicine and biology - 1 Jan 2019

Dockery Adrian, Carrigan Matthew, Wynne Niamh, Stephenson Kirk, Keegan David, Kenna Paul F, Farrar G Jane

Abstract excerpt

Here we describe the identification and evaluation of a rare novel autosomal recessive mutation in FLVCR1 which is implicated solely in RP, with no evidence of posterior column ataxia in a number of affected patients. The mutation was detected as part of an ongoing target capture NGS study (Target 5000), aimed at identifying candidate variants in pedigrees with inherited retinal degenerations (IRDs) in Ireland....

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PMID: 31884612
DOI: 10.1007/978-3-030-27378-1_33

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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