Varaico: Literature-Extracted Genetic Variants

Gene:LAMA3
Variant:p.V51insFs
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LAMA3

NM_000227.6:p.V51insFs

Associated Papers

Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.

Wen D et al.

The Journal of Investigative Dermatology, 2024

Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.

Wang R et al.

Frontiers of Medicine, 2022

The natural history of laryngo-onycho-cutaneous syndrome: A case series of six pediatric patients and literature review.

Prodinger C et al.

Pediatric Dermatology, 2021

Atypical presentation of laryngo-onycho-cutaneous syndrome resulting from novel mutations in LAMA3A.

Vodo D et al.

Clinical and Experimental Dermatology, 2021

Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India.

Yenamandra VK et al.

Journal of Dermatological Science, 2017

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

McLean WH et al.

Human Molecular Genetics, 2003

c.151dup variant in LAMA3 in Pakistani patients affected with Shabbir Syndrome but showing mild symptoms.

Ullah A et al.

Pakistan Journal of Medical Sciences, 0

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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."