Varaico: Literature-Extracted Genetic Variants

Gene:DLK1
Variant:p.A198delFs
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DLK1

NM_003836.7:p.A198delFs

Associated Papers

The Role of DLK1 Deficiency in Central Precocious Puberty and Association with Metabolic Dysregulation.

D Apos Aniello F et al.

Hormone Research in Paediatrics, 2026

Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.

Montenegro L et al.

European Journal of Endocrinology, 2023

A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.

Palumbo S et al.

Journal of Endocrinological Investigation, 2023

Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature.

Yuan G et al.

Molecular Genetics & Genomic Medicine, 2022

High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.

Crespo RP et al.

Journal of the Endocrine Society, 2022

Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants.

Pham A et al.

European Journal of Human Genetics : Ejhg, 2021

Novel Genetic and Biochemical Findings of DLK1 in Children with Central Precocious Puberty: A Brazilian-Spanish Study.

Montenegro L et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

DLK1, Notch Signaling and the Timing of Puberty.

Macedo DB et al.

Seminars in Reproductive Medicine, 2019

DLK1 Is a Novel Link Between Reproduction and Metabolism.

Gomes LG et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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