Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.P317L
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B3GALT6

NM_080605.4:p.P317L

Associated Papers

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

James KN et al.

Npj Genomic Medicine, 2020

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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."