Varaico: Literature-Extracted Genetic Variants

Gene:POMT2
Variant:p.G266R
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POMT2

NM_013382.7:p.G266R

Associated Papers

Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy.

Zhao X et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023

Limb girdle muscular dystrophy due to mutations in POMT2.

Østergaard ST et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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."