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
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
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
Dominant and recessive SLC12A2-syndrome.
McNeill A et al.
American Journal of Medical Genetics. Part A, 2022
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.
Bilal Shamsi M et al.
Journal of Human Genetics, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
Expanding the genetic heterogeneity of intellectual disability.
Anazi S et al.
Human Genetics, 2017
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