Varaico: Literature-Extracted Genetic Variants

Gene:HFM1
Variant:p.D577Splc
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HFM1

NM_001017975.6:p.D577Splc

Associated Papers

Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility.

Podgrajsek R et al.

The World Journal of Men's Health, 2025

39843174 (PubMed )
Supplement: wjmh-43-908-s001.pdf

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

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

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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."