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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNM2

Variant:p.S619A

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DNM2

NM_001005361.3:p.S619A

hg38:chr19:10823861 T>G

Associated Papers

Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients.

Kenniston JA et al.

The Embo Journal, 2010

20700106 (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."