Associated Papers
De Novo SLC12A2 Variant Presenting as Congenital Hearing Loss With Vestibular Areflexia.
Ludin K et al.
American Journal of Medical Genetics. Part A, 2025
Cation Chloride Cotransporter NKCC1 Operates through a Rocking-Bundle Mechanism.
Ruiz Munevar MJ et al.
Journal of the American Chemical Society, 2024
NKCC1 in human diseases: is the SLC12A2 gene haploinsufficient?
Delpire E et al.
American Journal of Physiology. Cell Physiology, 2023
NKCC1 Deficiency in Forming Hippocampal Circuits Triggers Neurodevelopmental Disorder: Role of BDNF-TrkB Signalling.
Szymanski J et al.
Brain Sciences, 2022
Cell-based analysis of CLIC5A and SLC12A2 variants associated with hearing impairment in two African families.
Adadey SM et al.
Frontiers in Genetics, 2022
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.
Adadey SM et al.
Journal of Human Genetics, 2021
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
McNeill A et al.
Brain : a Journal of Neurology, 2020
Select a paper to view details