Varaico: Literature-Extracted Genetic Variants

Gene:LAMA3
Variant:p.Y51insFs
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LAMA3

NM_198129.4:p.Y51insFs

Associated Papers

Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes.

Khan FF et al.

Biomolecules, 2021

Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran.

Barzegar M et al.

International Journal of Dermatology, 2015

A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.

Barzegar M et al.

The British Journal of Dermatology, 2013

Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon.

Pacho F et al.

Journal of Medical Genetics, 2011

Laryngo-onycho-cutaneous syndrome.

Cohn HI et al.

Dermatologic Clinics, 2010

Biological function of laminin-5 and pathogenic impact of its deficiency.

Schneider H et al.

European Journal of Cell Biology, 2007

Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.

Figueira EC et al.

Clinical & Experimental Ophthalmology, 2007

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

Varki R et al.

Journal of Medical Genetics, 2006

The alpha-3 polypeptide chain of laminin 5: insight into wound healing responses from the study of genodermatoses.

Hamill KJ et al.

Clinical and Experimental Dermatology, 2005

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

Laminin 332 in junctional epidermolysis bullosa.

Kiritsi D et al.

Cell Adhesion & Migration, 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."