Varaico: Literature-Extracted Genetic Variants

Gene:CHMP4B
Variant:p.E143_T147del5
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CHMP4B

NM_176812.5:p.E143_T147del5

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

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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."