Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.C115S
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MKRN3

NM_005664.4:p.C115S

Associated Papers

Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.

Jin YY et al.

World Journal of Pediatrics : Wjp, 2026

[Gonadotropin-dependent precocious puberty: genetic and clinical characteristics].

Khabibullina DA et al.

Problemy Endokrinologii, 2023

[Clinical and molecular genetic features of 3 family cases of the central precocious puberty, due to MKRN3 gene defects].

Zubkova NA et al.

Problemy Endokrinologii, 2021

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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."