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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTM1

Variant:p.G476R

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MTM1

NM_000252.3:p.G476R

hg38:chrX:150660443 G>C

Associated Papers

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.

Reumers SFI et al.

Neurology, 2021

34011573 (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."