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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTM1

Variant:p.A34G

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MTM1

NM_000252.3:p.A34G

hg38:chrX:150596535 C>G

Associated Papers

Neuromuscular Features in XL-MTM Carriers: A Cross-sectional Study in an Unselected Cohort.

Franken DK et al.

Neurology, 2022

36195450 (PubMed )

X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?

Carstens PO et al.

Neurology. Genetics, 2019

31192301 (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."