Varaico: Literature-Extracted Genetic Variants

Gene:RNPC3
Variant:p.M208_Y209Splc
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RNPC3

NM_017619.4:p.M208_Y209Splc

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

34906446 (PubMed )
Supplement: EMS142040-supplement-Supplementary_Materials.pdf
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