Varaico: Literature-Extracted Genetic Variants

Gene:LAMB3
Variant:p.Q124_G125Splc
Back to variants list

LAMB3

NM_000228.3:p.Q124_G125Splc

Associated Papers

Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.

Tu WT et al.

Orphanet Journal of Rare Diseases, 2022

36578049 (PubMed )
Supplement: 13023_2022_2605_MOESM3_ESM.docx

Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report.

Wang W et al.

Frontiers in Genetics, 2022

Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations.

Hou PC et al.

Acta Dermato-venereologica, 2021

Topical gentamicin ointment induces LAMB3 nonsense mutation readthrough and improves corneal erosions in a patient with junctional epidermolysis bullosa.

Hung JH et al.

Clinical & Experimental Ophthalmology, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."