Varaico: Literature-Extracted Genetic Variants

Gene:LAMA1
Variant:p.R139C
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LAMA1

NM_005559.4:p.R139C

Associated Papers

Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.

Repiská G et al.

Genes, 2025

40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.

Maggi J et al.

International Journal of Molecular Sciences, 2024

38928247 (PubMed )
Supplement: ijms-25-06540-s001.zip › Manuscript_WGS_Table_S3.pdf

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed

Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.

Koo K et al.

Cancers, 2021

33804510 (PubMed )
Supplement: cancers-13-01029-s001.zip › Supplementary_Data.xlsx › Somatic_mutations
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