Varaico: Literature-Extracted Genetic Variants

Gene:ESX1
Variant:p.P320_R329del0
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ESX1

NM_153448.4:p.P320_R329del0

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

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families
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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."