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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHM

Variant:p.Y254*

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CHM

NM_000390.4:p.Y254*

hg38:chrX:85958918 A>T

Associated Papers

The functional effect of pathogenic mutations in Rab escort protein 1.

Sergeev YV et al.

Mutation Research, 2009

19427510 (PubMed )

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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."