Associated Papers
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Maroofian R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38054405 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Normand EA et al.
Genome Medicine, 2018
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