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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HP

Variant:p.D397delFs

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HP

NM_005143.5:p.D397delFs

hg38:chr16:72060857 GGA>G

Associated Papers

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

Schartner V et al.

Acta Neuropathologica, 2017

28012042 (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."