Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.Q105*
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CRX

NM_000554.6:p.Q105*

Associated Papers

Systematic review of genotype-phenotype associations in CRX-associated retinal dystrophies.

Banjak M et al.

Bmj Open Ophthalmology, 2025

Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.

Yi Z et al.

Experimental Eye Research, 2019

CRX-linked macular dystrophy with intrafamilial variable expressivity.

Romdhane K et al.

Ophthalmic Genetics, 2018

IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.

Schorderet DF et al.

Biomed Research International, 2013

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