Varaico: Literature-Extracted Genetic Variants

Gene:FYCO1
Variant:p.Q782fs
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FYCO1

NM_024513.4:p.Q782fs

Associated Papers

Identification and Functional Characterization of Mutation in FYCO1 in Families with Congenital Cataract.

Ullah MI et al.

Life (basel, Switzerland), 2023

Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.

Barashkov NA et al.

European Journal of Human Genetics : Ejhg, 2021

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.

Chen J et al.

Investigative Ophthalmology & Visual Science, 2017

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

Patel N et al.

Human Genetics, 2017

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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."