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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MLIP

Variant:p.V821_K822delFs

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MLIP

NM_001281746.2:p.V821_K822delFs

hg38:chr6:54160791 ACAGT>A

Associated Papers

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

34581780 (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."