Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.R345C
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MKRN3

NM_005664.4:p.R345C

Associated Papers

MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.

Aiello F et al.

Journal of Endocrinological Investigation, 2024

Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.

Magnotto JC et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

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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."