Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.H615Q
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SLC5A1

NM_000343.4:p.H615Q

Associated Papers

A genome-wide association analysis reveals new pathogenic pathways in gout.

Major TJ et al.

Nature Genetics, 2024

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

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

Cannizzaro M et al.

Journal of Applied Genetics, 2019

Genetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk.

Seidelmann SB et al.

Journal of the American College of Cardiology, 2018

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.

Zhang G et al.

Human Genomics, 2011

Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.

Xin B et al.

Clinical Genetics, 2011

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Zhang G et al.

Human Mutation, 2010

Molecular basis for glucose-galactose malabsorption.

Wright EM et al.

Cell Biochemistry and Biophysics, 2002

Glucose transport families SLC5 and SLC50.

Wright EM

Molecular Aspects of Medicine, 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."