Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.E111*
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MKRN3

NM_005664.4:p.E111*

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

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 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

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

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

(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.

Suzuki E et al.

Human Genome Variation, 2019

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

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

Abreu AP et al.

Journal of Molecular Endocrinology, 2015

A novel MKRN3 missense mutation causing familial precocious puberty.

de Vries L et al.

Human Reproduction (oxford, England), 2014

MKRN3 mutations in familial central precocious puberty.

Schreiner F et al.

Hormone Research in Paediatrics, 2014

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