Varaico: Literature-Extracted Genetic Variants

Gene:RNPC3
Variant:p.R205*
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RNPC3

NM_017619.4:p.R205*

Associated Papers

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.

Akin L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.

Verberne EA et al.

American Journal of Medical Genetics. Part A, 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."