Varaico: Literature-Extracted Genetic Variants

Gene:DPY19L2
Variant:p.R290H
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DPY19L2

NM_173812.5:p.R290H

Associated Papers

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

Gao Y et al.

Human Reproduction Update, 2026

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia.

López-Rodrigo O et al.

Reproductive Biomedicine Online, 2022

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

Faja F et al.

Life (basel, Switzerland), 2021

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

Okutman O et al.

Genes, 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

[Genetic aspects of male infertility: From bench to clinic].

Ben Rhouma M et al.

Gynecologie, Obstetrique, Fertilite & Senologie, 2019

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

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

Coutton C et al.

Human Reproduction (oxford, England), 2012

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

Coutton C et al.

Human Reproduction Update, 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."