Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.R328C
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MKRN3

NM_005664.4:p.R328C

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

Novel variants ensued genomic imprinting in familial central precocious puberty.

Karaman V et al.

Journal of Endocrinological Investigation, 2024

MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.

Aiello F et al.

Journal of Endocrinological Investigation, 2024

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

Wang J et al.

Frontiers in Endocrinology, 2024

The Role of SNPs in the Pathogenesis of Idiopathic Central Precocious Puberty in Girls.

Toutoudaki K et al.

Children (basel, Switzerland), 2023

Six Novel Variants in the MKRN3 Gene Causing Central Precocious Puberty.

Gernay C et al.

Journal of the Endocrine Society, 2022

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 Mutations in Central Precocious Puberty: A Systematic Review and Meta-Analysis.

Valadares LP et al.

Journal of the Endocrine Society, 2019

(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

Molecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty.

Grandone A et al.

Hormone Research in Paediatrics, 2017

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

Simon D et al.

European Journal of Endocrinology, 2016

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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."