Varaico: Literature-Extracted Genetic Variants

Gene:POP4
Variant:p.R66C
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POP4

NM_006627.3:p.R66C

Associated Papers

Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.

Gomes ME et al.

Molecular Syndromology, 2020

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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."