Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.P161delFs
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MKRN3

NM_005664.4:p.P161delFs

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

Genetic variants of the DLK1, KISS1R, MKRN3 genes in girls with precocious puberty.

Sazhenova EA et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 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

A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.

Palumbo S et al.

Journal of Endocrinological Investigation, 2023

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

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

Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.

Dimitrova-Mladenova MS et al.

The Journal of Pediatrics, 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

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

Macedo DB et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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

Bulcao Macedo D et al.

Neuroendocrinology, 2014

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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."