Varaico: Literature-Extracted Genetic Variants

Gene:HCCS
Variant:p.D141G
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HCCS

NM_005333.5:p.D141G

Associated Papers

A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family.

Ma K et al.

Molecular Genetics & Genomic Medicine, 2019

31215171 (PubMed )
Supplement: MGG3-7-e825-s001.docx
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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."