Varaico: Literature-Extracted Genetic Variants

Gene:HFM1
Variant:p.G1034S
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HFM1

NM_001017975.6:p.G1034S

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

Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment.

Dhar S et al.

Scientific Reports, 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

Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.

Okutman O et al.

Genes, 2021

Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention.

Liu H et al.

Journal of Ovarian Research, 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."