Varaico: Literature-Extracted Genetic Variants

Gene:GNPNAT1
Variant:p.F26C
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GNPNAT1

NM_198066.4:p.F26C

Associated Papers

A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.

Elhossini RM et al.

American Journal of Medical Genetics. Part A, 2022

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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."