Varaico: Literature-Extracted Genetic Variants

Gene:WAC
Variant:p.E162fs
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WAC

NM_016628.5:p.E162fs

Associated Papers

Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.

Morales JA et al.

American Journal of Medical Genetics. Part A, 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."