Varaico: Literature-Extracted Genetic Variants

Gene:NAPRT
Variant:p.P49S
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NAPRT

NM_145201.6:p.P49S

Associated Papers

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.

Shaheen R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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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."