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Article

Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.

JAMA ophthalmology - 1 Nov 2024

Ullah Ehsan, Lin Siying, Lu Jiaxiong, Bender Chelsea, Webster Andrew R, Malka Samantha, Madhusudhan Savita, Rees Emma, Williams Denise, Agather Aime R, Cukras Catherine A, Hufnagel Robert B, Chen Rui, Huryn Laryssa A, Arno Gavin, Guan Bin

Abstract excerpt

Importance: Inherited retinal dystrophies (IRDs) present a challenge in clinical diagnostics due to their pronounced genetic heterogeneity. Despite advances in next-generation sequencing (NGS) technologies, a substantial portion of the genetic basis underlying IRDs remains elusive. Addressing this gap seems important for gaining insights into the genetic landscape of IRDs, which may help improve diagnosis and...

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Identifiers

PMID: 39325468
DOI: 10.1001/jamaophthalmol.2024.3836
PMCID: PMC11428035

Genes

UBAP1L

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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