Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.Y391insFs
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MKRN3

NM_005664.4:p.Y391insFs

Associated Papers

Novel MKRN3 gene mutation associated with central precocious puberty in a Chinese child: a case report.

Wang J et al.

Frontiers in Endocrinology, 2024

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

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

Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation.

Macedo DB et al.

Endocrine Development, 2016

A new pathway in the control of the initiation of puberty: the MKRN3 gene.

Abreu AP et al.

Journal of Molecular Endocrinology, 2015

New causes of central precocious puberty: the role of genetic factors.

Bulcao Macedo D et al.

Neuroendocrinology, 2014

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

Abreu AP et al.

The New England Journal of Medicine, 2013

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