Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.R328H
Back to variants list

MKRN3

NM_005664.4:p.R328H

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

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

Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.

Seraphim CE et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

TP53 mutation and MET amplification in circulating tumor DNA analysis predict disease progression in patients with advanced gastric cancer.

Li J et al.

Peerj, 2021

33959414 (PubMed )
Supplement: peerj-09-11146-s003.xlsx › Sheet2

Methylome profiling of healthy and central precocious puberty girls.

Bessa DS et al.

Clinical Epigenetics, 2018

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."