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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MBTPS2

Variant:p.P248T

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MBTPS2

NM_015884.4:p.P248T

hg38:chrX:21868538 C>A

Associated Papers

Molecular Basis of Hereditary Hair Diseases.

Shimomura Y

The Keio Journal of Medicine, 2025

37407443 (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."