Varaico: Literature-Extracted Genetic Variants

Gene:UBTFL1
Variant:p.L333_E335delFs
Back to variants list

UBTFL1

NM_001143975.1:p.L333_E335delFs

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS04_het

A comprehensive analysis of germline predisposition to early-onset ovarian cancer.

Horackova K et al.

Scientific Reports, 2024

39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.

Smyk M et al.

Genes, 2023

36980952 (PubMed )
Supplement: genes-14-00680-s001.zip › Supplementary_Table_S5.xlsx › Arkusz1

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL2
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."