Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.V44M
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CRYBB1

NM_001887.4:p.V44M

Associated Papers

Multimodule characterization of immune subgroups in intrahepatic cholangiocarcinoma reveals distinct therapeutic vulnerabilities.

Lin J et al.

Journal for Immunotherapy of Cancer, 2022

35863823 (PubMed )
Supplement: jitc-2022-004892supp008.xlsx › 1._WES_mutations

Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts.

Mohebi M et al.

Iranian Journal of Basic Medical Sciences, 2017

Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

Sun W et al.

Plos One, 2014

Mutation analysis of 12 genes in Chinese families with congenital cataracts.

Sun W et al.

Molecular Vision, 2011

A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.

Bennett TM et al.

Molecular Vision, 2011

Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3).

Zhou Z et al.

Molecular Vision, 2010

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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."