Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.C410*
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MKRN3

NM_005664.4:p.C410*

Associated Papers

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

Aiello F et al.

Journal of Endocrinological Investigation, 2024

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

Toutoudaki K et al.

Children (basel, Switzerland), 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

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

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

Grandone A et al.

Hormone Research in Paediatrics, 2017

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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."