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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCTS1

Variant:p.W175*

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MCTS1

NM_014060.3:p.W175*

hg38:chrX:120612242 G>A

Associated Papers

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease.

Zhou Q et al.

Journal of Human Immunity, 2026

41623352 (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."