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Expanding the sperm phenotype caused by mutations in SPATA20: A novel splicing mutation in an infertile patient with partial globozoospermia.

Clinical genetics - 1 May 2023

Martinez Guillaume, Metzler-Guillemain Catherine, Cazin Caroline, Kherraf Zine-Eddine, Paulmyer-Lacroix Odile, Arnoult Christophe, Ray Pierre F, Coutton Charles

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36537262
DOI: 10.1111/cge.14284

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Expanding the sperm phenotype caused by mutations in SPATA20: A novel splicing mutation in an infertile patient with partial globozoospermia.PMID 36537262Read ↗

Identification of nonfunctional SPATA20 causing acephalic spermatozoa syndrome in humans.Semantic proximity Read ↗

A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.Semantic proximity Read ↗

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.Semantic proximity Read ↗

First successful pregnancy in a globozoospermic patient having homozygous mutation in SPATA16.Semantic proximity Read ↗

Novel STAG3 variant causes oligoasthenoteratozoospermia with high sperm aneuploidy rateSemantic proximity Read ↗

Loss-of-Function SPAG17 Variant in Patients with Severe Asthenozoospermia: Upgrading Gene-Disease Validity to ModerateSemantic proximity Read ↗

A new hemizygous missense mutation, c.454T＞C (p.S152P), in AKAP4 gene is associated with asthenozoospermia.Semantic proximity Read ↗

<i>Spata6</i> is required for normal assembly of the sperm connecting piece and tight head–tail conjunctionSemantic proximity Read ↗

Splicing Mutation in DNALI1 Causes Male Infertility with Severe Oligoasthenoteratozoospermia in Humans.Semantic proximity Read ↗

Homozygous SPAG6 Variants Can Induce Nonsyndromic Asthenoteratozoospermia With Severe MMAFSemantic proximity Read ↗

[Molecular genetics of globozoospermia: an update].Semantic proximity Read ↗

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies.Semantic proximity Read ↗

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