Varaico: Literature-Extracted Genetic Variants

Gene:RBM15
Variant:p.S175insFs
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RBM15

NM_022768.5:p.S175insFs

Associated Papers

A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements.

Harms FL et al.

Hgg Advances, 2026

Mutation analysis of Wilson disease in Taiwan and description of six new mutations.

Tsai CH et al.

Human Mutation, 1998

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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."