Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.E298*
Back to variants list

MKRN3

NM_005664.4:p.E298*

Associated Papers

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

Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.

Neocleous V et al.

Frontiers in Endocrinology, 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

A novel MKRN3 nonsense mutation causing familial central precocious puberty.

Christoforidis A et al.

Endocrine, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."