Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.R252L
Back to variants list

ITGB4

NM_000213.5:p.R252L

Associated Papers

Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review.

Luo C et al.

Frontiers in Pediatrics, 2023

37033187 (PubMed )
Supplement: Datasheet1.pdf

Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy.

Ellis C et al.

Jaad Case Reports, 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."