Varaico: Literature-Extracted Genetic Variants

Gene:HELQ
Variant:p.Y1032delFs
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HELQ

NM_133636.5:p.Y1032delFs

Associated Papers

A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.

Bakhshalizadeh S et al.

Genes, 2024

The landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review.

Allouch A et al.

Frontiers in Endocrinology, 2023

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

Heddar A et al.

Ebiomedicine, 2022

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Rio-Machin A et al.

Nature Communications, 2020

32098966 (PubMed )
Supplement: 41467_2020_14829_MOESM11_ESM.xlsx › ST_8__Candidate_genes

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.

França MM et al.

Plos One, 2020

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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."