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
NKCC1 in human diseases: is the SLC12A2 gene haploinsufficient?
Delpire E et al.
American Journal of Physiology. Cell Physiology, 2023
Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins.
Hasenahuer MA et al.
Journal of Molecular Biology, 2023
NKCC1 Deficiency in Forming Hippocampal Circuits Triggers Neurodevelopmental Disorder: Role of BDNF-TrkB Signalling.
Szymanski J et al.
Brain Sciences, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
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
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.
Bilal Shamsi M et al.
Journal of Human Genetics, 2021
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
Mutai H et al.
Plos Genetics, 2020
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