Varaico: Literature-Extracted Genetic Variants

Gene:ACTN4
Variant:p.L88M
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ACTN4

NM_004924.6:p.L88M

Associated Papers

Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.

Jin A et al.

Frontiers in Cell and Developmental Biology, 2022

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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."