Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A5
Variant:p.E293*
Back to variants list

SLC25A5

NM_001152.5:p.E293*

Associated Papers

The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis.

Geng C et al.

Journal of Clinical Neurology (seoul, Korea), 2025

40635539 (PubMed )
Supplement: jcn-21-340-s001.pdf

Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach.

Bale G et al.

Journal of Gastroenterology and Hepatology, 2024

An approach for developing a blood-based screening panel for lung cancer based on clonal hematopoietic mutations.

Anandakrishnan R et al.

Plos One, 2024

39172974 (PubMed )
Supplement: pone.0307232.s001.zip › SI_Tables_v_7-19-2023.xlsx › S2._Pathogenic_var

Characterization of the genomic alterations in poorly differentiated thyroid cancer.

Lee Y et al.

Scientific Reports, 2023

37932340 (PubMed )
Supplement: 41598_2023_46466_MOESM2_ESM.xlsx › P08

Potential immunosuppressive clonal hematopoietic mutations in tumor infiltrating immune cells in breast invasive carcinoma.

Anandakrishnan R et al.

Scientific Reports, 2023

37573441 (PubMed )
Supplement: 41598_2023_40256_MOESM2_ESM.xlsx › S3._Pathogenic_variants

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1

Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance.

Jaouadi H et al.

Clinical Case Reports, 2022

35341025 (PubMed )
Supplement: CCR3-10-e05339-s001.xlsx › Feuil1

Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias.

Chen Z et al.

Molecular Genetics & Genomic Medicine, 2020

Evolutionary history of human colitis-associated colorectal cancer.

Baker AM et al.

Gut, 2019

29991641 (PubMed )
Supplement: gutjnl-2018-316191supp005.xlsx › UC05
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."