Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.G254D
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LAMB3

NM_000228.3:p.G254D

Associated Papers

Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor-like motif 2 of the β3 short arm.

Condorelli AG et al.

The British Journal of Dermatology, 2018

Structural Defects of Laminin β3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response.

El Hachem M et al.

Acta Dermato-venereologica, 2016

A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report.

Goldoni M et al.

Pediatric Dermatology, 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."