Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.R63*
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SLC5A1

NM_000343.4:p.R63*

Associated Papers

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

Esposito MV et al.

Diagnostics (basel, Switzerland), 2021

Literature review on congenital glucose-galactose malabsorption from 2001 to 2019.

Wang W et al.

Journal of Paediatrics and Child Health, 2020

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Cheema H et al.

Npj Genomic Medicine, 2020

33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf

Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease.

Cannizzaro M et al.

Journal of Applied Genetics, 2019

Nephrolithiasis in a child with glucose-galactose malabsorption.

Tasic V et al.

Pediatric Nephrology (berlin, Germany), 2004

Congenital Glucose-Galactose Malabsorption: A Case Report.

Anderson S et al.

Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."