Varaico: Literature-Extracted Genetic Variants

Gene:GNPAT
Variant:p.M477delFs
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GNPAT

NM_014236.4:p.M477delFs

Associated Papers

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

Itzkovitz B et al.

Human Mutation, 2012

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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."