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Paper Details

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Genet Med
2
2024
HCO, NCBE, NDD, Na, Patients, SLC4A10, SLC4A10 variants, Slc4a10, abnormalities of the central nervous system, behavioral abnormalities, bicarbonate, bilateral curvilinear nodular heterotopia, central hypotonia, cerebellar ataxia, chloride-, deafness, developmental delay, dysmorphology, epilepsy, facial dysmorphism, impaired vision, intellectual disability, mice, microcephaly, minigene, missense variants, neurodevelopmental disorder, neurodevelopmental disorders, patients, slit ventricles, sodium, sodium-dependent chloride-bicarbonate exchanger, speech delay, variant alleles
Author NameAffiliation
Wendy K ChungBoston Children's Hospital, Harvard Medical School
Wendy K ChungBoston Children's Hospital, Harvard Medical School
James R LupskiTexas Children's Hospital, Baylor College of Medicine
James R LupskiTexas Children's Hospital, Baylor College of Medicine
Henry HouldenUCL Queen Square Institute of Neurology
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