Varaico: Literature-Extracted Genetic Variants

Gene:POMT2
Variant:p.M200_M204del0
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POMT2

NM_013382.7:p.M200_M204del0

Associated Papers

Genetic findings in Czech patients with limb girdle muscular dystrophy.

Zídková J et al.

Clinical Genetics, 2023

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Nallamilli BRR et al.

Annals of Clinical and Translational Neurology, 2018

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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."