Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.S550N
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POMGNT1

NM_017739.4:p.S550N

Associated Papers

Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method.

Eker D et al.

Global Medical Genetics, 2022

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

The population genetics of human disease: The case of recessive, lethal mutations.

Amorim CEG et al.

Plos Genetics, 2017

28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Taniguchi K et al.

Human Molecular Genetics, 2003

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

Yoshida A et al.

Developmental Cell, 2001

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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."