Varaico: Literature-Extracted Genetic Variants

Gene:LAMC3
Variant:p.R1368fs
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LAMC3

NM_006059.4:p.R1368fs

Associated Papers

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1

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

A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3.

Abe K et al.

Neurology. Genetics, 2022

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