Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A11
Variant:p.N150S
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SLC4A11

NM_001174089.2:p.N150S

Associated Papers

SLC4A11 Revisited: Isoforms, Expression, Functions, and Unresolved Questions.

Kovaleva PA et al.

Biomolecules, 2025

40563515 (PubMed )
Supplement: biomolecules-15-00875-s001.zip › biomolecules-3667328-supplementary.xlsx › SLC4A11_cases

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

Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.

Liu X et al.

Eye and Vision (london, England), 2021

The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy.

Zhang J et al.

Molecular Diagnosis & Therapy, 2019

Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.

Minear MA et al.

Molecular Vision, 2013

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
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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."