Varaico: Literature-Extracted Genetic Variants

Gene:MLIP
Variant:p.L863_T864Splc
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MLIP

NM_001281747.2:p.L863_T864Splc

Associated Papers

MLIP-Associated Myopathy: A Case Report and Review of the Literature.

Al Amrani F et al.

Journal of Neuromuscular Diseases, 2023

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.

Lopes Abath Neto O et al.

Brain : a Journal of Neurology, 2021

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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."