Varaico: Literature-Extracted Genetic Variants

Gene:AGPS
Variant:p.A52insFs
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AGPS

NM_003659.4:p.A52insFs

Associated Papers

Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.

İli EG 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."