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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KBTBD13

Variant:p.P280S

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KBTBD13

NM_001101362.3:p.P280S

hg38:chr15:65077653 C>T

Associated Papers

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

Todd JJ et al.

Frontiers in Neurology, 2018

29556213 (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."