Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.R287delFs
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MKRN3

NM_005664.4:p.R287delFs

Associated Papers

Novel MKRN3 gene mutation associated with central precocious puberty in a Chinese child: a case report.

Wang J et al.

Frontiers in Endocrinology, 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."