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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POMGNT1

Variant:p.V626delFs

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POMGNT1

NM_017739.4:p.V626delFs

hg38:chr1:46189476 AC>A

Associated Papers

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

Hehr U et al.

Neurogenetics, 2007

17906881 (PubMed )

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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."