Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.Q428_G429Splc
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POMGNT1

NM_017739.4:p.Q428_G429Splc

Associated Papers

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.

Kaseniit KE et al.

Clinical Genetics, 2019

31170325 (PubMed )
Supplement: CGE-96-236-s003.pdf

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Hehr U et al.

Neurogenetics, 2007

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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."