Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.Q281*
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MKRN3

NM_005664.4:p.Q281*

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

Aberrant Notch Signaling Pathway as a Potential Mechanism of Central Precocious Puberty.

Shim YS et al.

International Journal of Molecular Sciences, 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

Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports.

Jiang LQ et al.

World Journal of Clinical Cases, 2021

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

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

Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls.

Lee HS et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 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."