Varaico: Literature-Extracted Genetic Variants

Gene:DPY19L2
Variant:p.R298C
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DPY19L2

NM_173812.5:p.R298C

Associated Papers

The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.

Gao Y et al.

Human Reproduction Update, 2026

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

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

Faja F et al.

Life (basel, Switzerland), 2021

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.

Celse T et al.

Human Genetics, 2021

[Familial fragile X syndrome: A pedigree analysis].

Sha YW et al.

Zhonghua Nan Ke Xue = National Journal of Andrology, 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

DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations.

Zhu F et al.

Molecular Human Reproduction, 2013

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

Elinati E et al.

Human Molecular Genetics, 2012

Globozoospermic infertility associated with balanced DPY19L2 translocation/gene deletion at the chromosomal breakpoint.

Sha YW et al.

Asian Journal of Andrology, 0

Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility.

Shang YL et al.

Asian Journal of Andrology, 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."