Varaico: Literature-Extracted Genetic Variants

Gene:RNPC3
Variant:p.L483F
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RNPC3

NM_017619.4:p.L483F

Associated Papers

A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.

Yavas Abali Z et al.

Hormone Research in Paediatrics, 2024

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

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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."