Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.V31785del1
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TTN

NM_001267550.2:p.V31785del1

Associated Papers

A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.

Sano Y et al.

Internal Medicine (tokyo, Japan), 2022

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

Palmio J et al.

Journal of Neurology, 2019

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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."