Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.R351_Q352delFs
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MKRN3

NM_005664.4:p.R351_Q352delFs

Associated Papers

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

Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.

Dimitrova-Mladenova MS et al.

The Journal of Pediatrics, 2016

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