Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT2
Variant:p.D171N
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POMGNT2

NM_032806.6:p.D171N

Associated Papers

New phenotype caused by POMGNT2 mutations.

Cassone M et al.

Bmj Case Reports, 2021

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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."