Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.L440R
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POMGNT1

NM_017739.4:p.L440R

Associated Papers

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.

Jiao H et al.

Molecular Genetics and Genomics : Mgg, 2013

[Clinical and mutation analysis of a Chinese family with muscle eye brain disease].

Jiao H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011

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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."