Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.P160fs
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MKRN3

NM_005664.4:p.P160fs

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

Use of serum MKRN3 and DLK1 levels in precocious puberty: association with an MKRN3 pathogenic variant.

Karakilic-Ozturan E et al.

Therapeutic Advances in Endocrinology and Metabolism, 2026

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

Aiello F et al.

Journal of Endocrinological Investigation, 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

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

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

Grandone A et al.

Hormone Research in Paediatrics, 2017

A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene.

Grandone A et al.

Bmc Endocrine Disorders, 2015

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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."