Varaico: Literature-Extracted Genetic Variants

Gene:HFM1
Variant:p.R562Splc
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HFM1

NM_001017975.6:p.R562Splc

Associated Papers

Case Report and Literature Review: A 46,XX Infant with Atypical Genitalia Diagnosed with Primary Ovarian Insufficiency Caused by HFM1 Gene Variants.

Yuan Z et al.

Hormone Research in Paediatrics, 2025

Novel deleterious splicing variant in HFM1 causes gametogenesis defect and recurrent implantation failure: concerning the risk of chromosomal abnormalities in embryos.

Tang F et al.

Journal of Assisted Reproduction and Genetics, 2023

Novel pathogenic splicing variants in helicase for meiosis 1 (HFM1) are associated with diminished ovarian reserve and poor pregnancy outcomes.

Yu L et al.

Journal of Assisted Reproduction and Genetics, 2022

Meiotic Recombination Defects and Premature Ovarian Insufficiency.

Huang C et al.

Frontiers in Cell and Developmental Biology, 2021

A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency.

Zhe J et al.

Journal of Ovarian Research, 2019

Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women.

Pu D et al.

Clinical Genetics, 2016

Variation analysis of EXO1 gene in Chinese patients with premature ovarian failure.

Su S et al.

Reproductive Biomedicine Online, 2016

Mutations in HFM1 in recessive primary ovarian insufficiency.

Wang J et al.

The New England Journal of Medicine, 2014

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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."