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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KBTBD13

Variant:p.R175C

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KBTBD13

NM_001101362.3:p.R175C

hg38:chr15:65077338 C>T

Associated Papers

Expanding the Clinical Spectrum of PIEZO2 Duplications: A Case of Global Motor Delay, Congenital Sensory Neuropathy, and Musculoskeletal Abnormalities.

Lee G et al.

Cureus, 2025

41531622 (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."