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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPOX

Variant:p.D341N

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CPOX

NM_000097.7:p.D341N

hg38:chr3:98585592 C>T

Associated Papers

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.

Knuiman GJ et al.

Journal of Neurology, 2019

30788618 (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."