Varaico: Literature-Extracted Genetic Variants

Gene:POMT2
Variant:p.R659W
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POMT2

NM_013382.7:p.R659W

Associated Papers

[Prenatal diagnosis for a fetus with Walker-Warburg syndrome].

Ma P et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex.

Bai L et al.

Nature Structural & Molecular Biology, 2019

31285605 (PubMed )
Supplement: NIHMS1530499-supplement-2.pdf

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Savarese M et al.

Acta Neuropathologica Communications, 2014

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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."