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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KBTBD13

Variant:p.W12C

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KBTBD13

NM_001101362.3:p.W12C

hg38:chr15:65076851 G>T

Associated Papers

Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.

Wang Q et al.

Clinical Genetics, 2020

32222963 (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."