Varaico: Literature-Extracted Genetic Variants

Gene:LAMC3
Variant:p.R1291*
Back to variants list

LAMC3

NM_006059.4:p.R1291*

Associated Papers

Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy.

Saarela A et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2024

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review.

Falcicchio G et al.

Frontiers in Genetics, 2022

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression.

Blomquist MR et al.

Neuro-oncology Advances, 0

32743548 (PubMed )
Supplement: vdaa078_suppl_supplementary_table_4.xlsx › GBM-004
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."