Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.I205fs
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CRB1

NM_201253.3:p.I205fs

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Characteristics of Eyes With CRB1-Associated EOSRD/LCA: Age-Related Changes.

Ayash J et al.

American Journal of Ophthalmology, 2024

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.

Bravo-Gil N et al.

Scientific Reports, 2017

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

van Huet RA et al.

Molecular Vision, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."