Varaico: Literature-Extracted Genetic Variants

Gene:SPATA16
Variant:p.R283Q
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SPATA16

NM_031955.6:p.R283Q

Associated Papers

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

A Comprehensive Genetic Study of Microtubule-Associated Gene Clusters for Male Infertility in a Taiwanese Cohort.

Chan CC et al.

International Journal of Molecular Sciences, 2023

Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population.

Behvarz M et al.

Bmc Medical Genomics, 2022

Single-center thorough evaluation and targeted treatment of globozoospermic men.

Cheung S et al.

Journal of Assisted Reproduction and Genetics, 2021

Molecular Analysis of DPY19L2, PICK1 and SPATA16 in Italian Unrelated Globozoospermic Men.

Faja F et al.

Life (basel, Switzerland), 2021

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

Autosomal single-gene disorders involved in human infertility.

Jedidi I et al.

Saudi Journal of Biological Sciences, 2018

Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models.

Fujihara Y et al.

International Journal of Molecular Sciences, 2017

A new mutation identified in SPATA16 in two globozoospermic patients.

ElInati E et al.

Journal of Assisted Reproduction and Genetics, 2016

Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia.

Ghédir H et al.

Molecular Human Reproduction, 2016

A Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia.

Noveski P et al.

Balkan Journal of Medical Genetics : Bjmg, 2013

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.

Dam AH et al.

American Journal of Human Genetics, 2007

Teratozoospermia: spotlight on the main genetic actors in the human.

Coutton C et al.

Human Reproduction Update, 0

Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping.

Modarres P et al.

International Journal of Fertility & Sterility, 0

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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."