Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.R213fs
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MKRN3

NM_005664.4:p.R213fs

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

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

Genetic causes of central precocious puberty.

Tajima T

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022

Familial central precocious puberty: two novel MKRN3 mutations.

Varimo T et al.

Pediatric Research, 2021

Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.

Seraphim CE et al.

The Journal of Clinical Endocrinology and Metabolism, 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

MKRN3 regulates the epigenetic switch of mammalian puberty via ubiquitination of MBD3.

Li C et al.

National Science Review, 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

An update on the genetic causes of central precocious puberty.

Shin YL

Annals of Pediatric Endocrinology & Metabolism, 2016

Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.

Simon D et al.

European Journal of Endocrinology, 2016

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

MKRN3 mutations in familial central precocious puberty.

Schreiner F et al.

Hormone Research in Paediatrics, 2014

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."