Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.Q474*
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DNM2

NM_001005361.3:p.Q474*

Associated Papers

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

Annoussamy M et al.

Neurology, 2019

[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male].

Drouet A et al.

Revue Neurologique, 2008

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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."