Varaico: Literature-Extracted Genetic Variants

Gene:FYCO1
Variant:p.Q541*
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FYCO1

NM_024513.4:p.Q541*

Associated Papers

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

Ullah MI et al.

Life (basel, Switzerland), 2023

Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.

Saleem RS et al.

Molecular Genetics & Genomic Medicine, 2022

FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract.

Rudd Garces G et al.

Genes, 2022

35205377 (PubMed )
Supplement: genes-13-00334-s001.zip › Table_S2_Private_Variants_R1.xlsx › private_homozygous_variants

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

Mutations in FYCO1 identified in families with congenital cataracts.

Iqbal H et al.

Molecular Vision, 2020

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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."