Varaico: Literature-Extracted Genetic Variants

Gene:CHMP4B
Variant:p.H57R
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CHMP4B

NM_176812.5:p.H57R

Associated Papers

Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families.

Wang X et al.

Frontiers in Medicine, 2021

Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.

Li B et al.

Journal of Ophthalmology, 2020

32148946 (PubMed )
Supplement: 7054315.f1.pdf

Mutation profiles of congenital cataract genes in 21 northern Chinese families.

Zhang XH et al.

Molecular Vision, 2018

A charged multivesicular body protein (CHMP4B) is required for lens growth and differentiation.

Zhou Y et al.

Differentiation; Research in Biological Diversity, 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."