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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAD2L1BP

Variant:p.Q179H

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MAD2L1BP

NM_014628.3:p.Q179H

hg38:chr6:43640245 G>C

Associated Papers

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

Susman RD et al.

Neuromuscular Disorders : Nmd, 2010

20227276 (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."