Varaico: Literature-Extracted Genetic Variants

Gene:LCT
Variant:p.N1639S
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LCT

NM_002299.4:p.N1639S

Associated Papers

Functional Variation in Human CAZyme Genes in Relation to the Efficacy of a Carbohydrate-Restricted Diet in IBS Patients.

Zamfir-Taranu A et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2025

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8774__IV-2_

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index

Exome-wide association study identifies four novel loci for systemic lupus erythematosus in Han Chinese population.

Wen L et al.

Annals of the Rheumatic Diseases, 2018

Genetic variants regulating immune cell levels in health and disease.

Orrù V et al.

Cell, 2013

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

Torella A et al.

Plos One, 2013

23667635 (PubMed )
Supplement: pone.0063536.s006.xlsx › LGMD1F_HET_in_all
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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."