Varaico: Literature-Extracted Genetic Variants

Gene:ESX1
Variant:p.L348V
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ESX1

NM_153448.4:p.L348V

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

ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia.

Malcher A et al.

Scientific Reports, 2023

Identification of biallelic variations of CEP70 in patients with male infertility.

Ruan T et al.

Frontiers in Endocrinology, 2023

36967801 (PubMed )
Supplement: Table_1.xlsx › Patient_1

Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.

Malcher A et al.

Andrology, 2022

VENUS, a Novel Selection Approach to Improve the Accuracy of Neoantigens' Prediction.

Leoni G et al.

Vaccines, 2021

34452005 (PubMed )
Supplement: vaccines-09-00880-s001.zip › SupplementaryTable1.xlsx › 4069

Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical Cancer.

Bao C et al.

Frontiers in Oncology, 2021

34221990 (PubMed )
Supplement: Table_4.xlsx › Table_S4

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1

Development and clinical application of an integrative genomic approach to personalized cancer therapy.

Uzilov AV et al.

Genome Medicine, 2016

27245685 (PubMed )
Supplement: 13073_2016_313_MOESM5_ESM.pdf
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