Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.R556H
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LAMB3

NM_000228.3:p.R556H

Associated Papers

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219

The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.

BenAyed-Guerfali D et al.

Genes, 2022

35893033 (PubMed )
Supplement: genes-13-01296-s001.zip › Table_S2_supplementary_data.xlsx › Feuil2

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4a_-_Prenatal_screening
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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."