Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.V1651I
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SI

NM_001041.4:p.V1651I

Associated Papers

Genetic sucrase-isomaltase deficiency: epidemiology, clinical spectrum, and diagnostic challenge.

Demir E et al.

Scandinavian Journal of Gastroenterology, 2026

Sucrase-isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders.

Deb C et al.

Journal of Pediatric Gastroenterology and Nutrition, 2021

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1535.548
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