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Article

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

3 Mar 2023

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Share to Genetic Syndromes and Imprinting
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36864181
DOI: 10.1007/s10815-023-02761-8

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Novel deleterious splicing variant in HFM1 causes gametogenesis defect and recurrent implantation failure: concerning the risk of chromosomal abnormalities in embryosPMID 36864181Read ↗

A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiencySemantic proximity Read ↗

Novel Variants in HFM1 Lead to Male Infertility Due to Non-obstructive AzoospermiaSemantic proximity Read ↗

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Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and miceSemantic proximity Read ↗

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Exploring the role of non-canonical splice site variants in aberrant splicing associated with reproductive genetic disorders.Semantic proximity Read ↗

A homozygous variant in HFM1 causes preimplantation embryo developmental arrest by disrupting zygotic genome activation.Semantic proximity Read ↗

Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrestSemantic proximity Read ↗

Preconception Genetic Carrier Screening for Miscarriage Risk Assessment: A Bioinformatic Approach to Identifying Candidate Lethal Genes and VariantsSemantic proximity Read ↗

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