Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.C106Y
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SI

NM_001041.4:p.C106Y

Associated Papers

Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.

Barut D et al.

Scandinavian Journal of Gastroenterology, 2024

Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations.

İryancı Fİ et al.

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2024

Newborn Screening for Pompe Disease.

Sawada T et al.

International Journal of Neonatal Screening, 2020

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