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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FKRP

Variant:p.P217S

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FKRP

NM_024301.5:p.P217S

hg38:chr19:46756099 C>T

Associated Papers

Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.

Park HJ et al.

Clinical Genetics, 2017

27363342 (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."