Varaico: Literature-Extracted Genetic Variants

Gene:HFM1
Variant:p.Q659_F660Splc
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HFM1

NM_001017975.6:p.Q659_F660Splc

Associated Papers

Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis.

Li K et al.

Human Reproduction Update, 2025

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

Advances in the genetic etiology of female infertility.

Gu R et al.

Journal of Assisted Reproduction and Genetics, 2024

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

Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.

Luo W et al.

Journal of Ovarian Research, 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

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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."