Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.Y212delFs
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MKRN3

NM_005664.4:p.Y212delFs

Associated Papers

Phenotypic Variability of Males with Loss-of-Function Mutations of <italic>MKRN3</italic>: A Case Report and Literature Review.

Yamanaka MYM et al.

Hormone Research in Paediatrics, 2025

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

Wang J et al.

Frontiers in Endocrinology, 2024

E3 ligase MKRN3 is a tumor suppressor regulating PABPC1 ubiquitination in non-small cell lung cancer.

Li K et al.

The Journal of Experimental Medicine, 2021

Makorin RING finger protein 3 and central precocious puberty.

Maione L et al.

Current Opinion in Endocrine and Metabolic Research, 2020

A novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty: A case report.

Liu M et al.

Medicine, 2020

High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.

Bessa DS et al.

Neuroendocrinology, 2017

Two Frameshift Mutations in MKRN3 in Turkish Patients with Familial Central Precocious Puberty.

Simsek E et al.

Hormone Research in Paediatrics, 2017

Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty.

Ortiz-Cabrera NV et al.

Hormone Research in Paediatrics, 2017

Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation.

Macedo DB et al.

Endocrine Development, 2016

A new pathway in the control of the initiation of puberty: the MKRN3 gene.

Abreu AP et al.

Journal of Molecular Endocrinology, 2015

New causes of central precocious puberty: the role of genetic factors.

Bulcao Macedo D et al.

Neuroendocrinology, 2014

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

Abreu AP et al.

The New England Journal of Medicine, 2013

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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."