Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.I252S
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LAMP2

NM_002294.3:p.I252S

Associated Papers

Association of T-box gene polymorphisms with the risk of Wolff-Parkinson-White syndrome in a Han Chinese population.

Han B et al.

Medicine, 2022

The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.

Sepp R et al.

Diagnostics (basel, Switzerland), 2022

35626289 (PubMed )
Supplement: diagnostics-12-01132-s001.zip › diagnostics-1699952-supplementary.pdf

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

29875424 (PubMed )
Supplement: 41436_2018_46_MOESM1_ESM.xlsx › Table_S3

Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

Sofia VM et al.

Molecular Medicine (cambridge, Mass.), 2016

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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."