Varaico: Literature-Extracted Genetic Variants

Gene:GNPAT
Variant:p.K534_D535Splc
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GNPAT

NM_014236.4:p.K534_D535Splc

Associated Papers

Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene.

Sayed J et al.

Clinical Case Reports, 2023

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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."