Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A11
Variant:p.V213V
Back to variants list

SLC4A11

NM_001174089.2:p.V213V

Associated Papers

Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.

Tsedilina TR et al.

Frontiers in Medicine, 2023

37441688 (PubMed )
Supplement: Table_1.xlsx › SLC4A11_cases

A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Li Q et al.

Bmc Medical Genomics, 2022

35864542 (PubMed )
Supplement: 12920_2022_1315_MOESM2_ESM.xlsx › RawData

Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.

Liu X et al.

Eye and Vision (london, England), 2021

Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.

Hemadevi B et al.

Bmc Ophthalmology, 2010

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."