Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.P235delFs
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MMUT

NM_000255.4:p.P235delFs

Associated Papers

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Micale L et al.

Human Mutation, 2014

24633898 (PubMed )
Supplement: humu0035-0841-SD2.pdf
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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."