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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIK3C2B

Variant:p.V65E

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PIK3C2B

NM_001377334.1:p.V65E

hg38:chr1:204469609 A>T

Associated Papers

X-linked myotubular myopathy: A prospective international natural history study.

Annoussamy M et al.

Neurology, 2019

30902907 (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."