Varaico: Literature-Extracted Genetic Variants

Gene:LAMB1
Variant:p.I1547T
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LAMB1

NM_002291.3:p.I1547T

Associated Papers

Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.

Raaz C et al.

Case Reports in Genetics, 2026

Genetic variants in genes regulating lens capsule structure and stability in dead bag syndrome: part 1.

Vasavada AR et al.

Journal of Cataract and Refractive Surgery, 2025

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Circulating Tumour DNA Analysis for Tumour Genome Characterisation and Monitoring Disease Burden in Extramedullary Multiple Myeloma.

Mithraprabhu S et al.

International Journal of Molecular Sciences, 2018

29937522 (PubMed )
Supplement: ijms-19-01858-s001.zip › ijms-320037-supp › Supplementary_File_S1.xlsx › EM123_and_EM-S_SNV

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.

Beaudoin M et al.

Plos Genetics, 2013

The genetics of autistic disorders and its clinical relevance: a review of the literature.

Freitag CM

Molecular Psychiatry, 2007

Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.

Bonora E et al.

European Journal of Human Genetics : Ejhg, 2005

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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."