Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.V370del1
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SLC5A1

NM_000343.4:p.V370del1

Associated Papers

NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.

Esposito MV et al.

Diagnostics (basel, Switzerland), 2021

33567694 (PubMed )
Supplement: diagnostics-11-00262-s001.zip › diagnostics-1100279-supplementary › Supplementary_tables › New_Supplemental_Table_3.docx

Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene.

Vallaeys L et al.

European Journal of Pediatrics, 2013

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