Varaico: Literature-Extracted Genetic Variants

Gene:MT1HL1
Variant:p.T27S
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MT1HL1

NM_001276687.2:p.T27S

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
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