Varaico: Literature-Extracted Genetic Variants

Gene:MKRN3
Variant:p.A56T
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MKRN3

NM_005664.4:p.A56T

Associated Papers

Genetic Investigation of Regulatory Regions of MKRN3 and DLK1 Genes in Children with Central Precocious Puberty.

Piovesan M et al.

Hormone Research in Paediatrics, 2024

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

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

Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5'-UTR Region of the Imprinted MKRN3 Gene.

Fanis P et al.

Frontiers in Endocrinology, 2019

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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."