Varaico: Literature-Extracted Genetic Variants

Gene:HSF4
Variant:p.Q61R
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HSF4

NM_001374675.1:p.Q61R

Associated Papers

Structural analysis of missense mutations occurring in the DNA-binding domain of HSF4 associated with congenital cataracts.

Xiao Z et al.

Journal of Structural Biology: X, 2020

A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.

Berry V et al.

Eye (london, England), 2018

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Anand D et al.

Human Mutation, 2018

Mutation screening of HSF4 in 150 age-related cataract patients.

Shi Y et al.

Molecular Vision, 2008

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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."