Varaico: Literature-Extracted Genetic Variants

Gene:LAMC3
Variant:p.C301*
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LAMC3

NM_006059.4:p.C301*

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

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

Variants in LAMC3 Causes Occipital Cortical Malformation.

Qian X et al.

Frontiers in Genetics, 2021

34354730 (PubMed )
Supplement: Table_1.PDF

A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy.

Kasper BS et al.

American Journal of Medical Genetics. Part A, 2020

A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.

Zambonin JL et al.

Neurogenetics, 2018

Recessive LAMC3 mutations cause malformations of occipital cortical development.

Barak T et al.

Nature Genetics, 2011

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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."