Varaico: Literature-Extracted Genetic Variants

Gene:HSF4
Variant:p.A19D
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HSF4

NM_001374675.1:p.A19D

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

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

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

A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract.

Behnam M et al.

Journal of Human Genetics, 2016

Functional analysis of HSF4 mutations found in patients with autosomal recessive congenital cataracts.

Merath K et al.

Investigative Ophthalmology & Visual Science, 2013

[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].

PECCININI D

Arquivos Brasileiros De Oftalmologia, 1964

The genetic and molecular basis of congenital cataract.

Santana A et al.

Arquivos Brasileiros De Oftalmologia, 0

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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."