Varaico: Literature-Extracted Genetic Variants

Gene:ESX1
Variant:p.R281H
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ESX1

NM_153448.4:p.R281H

Associated Papers

Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.

Ibrahim R et al.

Reproductive Biology, 2025

Whole-exome sequencing identifies rare recessive variants in azoospermia patients from consanguineous Pakistani families.

Uddin I et al.

Molecular Genetics and Genomics : Mgg, 2024

Association of ESX1 gene variants with non-obstructive azoospermia in Chinese males.

Ma Q et al.

Scientific Reports, 2021

Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Li J et al.

Gut, 2020

31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › All_Somatic_mutations__CRC_
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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."