Varaico: Literature-Extracted Genetic Variants

Gene:LRP1
Variant:p.G1215E
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LRP1

NM_002332.3:p.G1215E

Associated Papers

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.

Zanoni P et al.

European Journal of Human Genetics : Ejhg, 2023

37012328 (PubMed )
Supplement: 41431_2023_1320_MOESM5_ESM.pdf

Genomic classification of benign adrenocortical lesions.

Faillot S et al.

Endocrine-related Cancer, 2021

33151900 (PubMed )
Supplement: supplementary_table_3.xlsx › Sup3__Somatic_mutations_Exome_

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Blumenau S et al.

Scientific Reports, 2020

32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S1

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Sassi C et al.

Plos One, 2016

27249223 (PubMed )
Supplement: pone.0150079.s002.xlsx › Tabelle1
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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."