Varaico: Literature-Extracted Genetic Variants

Gene:HSF4
Variant:p.S105T
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HSF4

NM_001374675.1:p.S105T

Associated Papers

Mutational spectrum in a Chinese cohort with congenital cataracts.

Liu HL et al.

Molecular Genetics & Genomic Medicine, 2023

37337769 (PubMed )
Supplement: MGG3-11-e2196-s001.xlsx › Sheet2

A novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts.

You Y et al.

Scientific Reports, 2021

Mutation screening of crystallin genes in Chinese families with congenital cataracts.

Zhuang J et al.

Molecular Vision, 2019

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.

Jiao X et al.

Plos One, 2019

Novel mutations in HSF4 cause congenital cataracts in Chinese families.

Cao Z et al.

Bmc Medical Genetics, 2018

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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."