Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.P200R
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ITGB4

NM_000213.5:p.P200R

Associated Papers

Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.

Ota VK et al.

Clinical and Experimental Dermatology, 2025

Molecular insights into genodermatoses: Genetic findings from 43 patients.

Sama AD et al.

Archives of Dermatological Research, 2025

A multi-omics analysis of pancreatitis: bridging familial genetics and disease progression.

Li F et al.

Frontiers in Immunology, 2025

Identification of novel compound heterozygous ITGB4 mutations in a Chinese woman with junctional epidermolysis bullosa without pylori atresia but profound urinary symptoms: A case report and review of the literature.

Zhou X et al.

The Journal of Dermatology, 2021

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.

Yu Y et al.

Acta Dermato-venereologica, 2021

Disorders of the cutaneous basement membrane zone--the paradigm of epidermolysis bullosa.

Bruckner-Tuderman L et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2014

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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."