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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITGB4

Variant:p.P125L

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ITGB4

NM_000213.5:p.P125L

hg38:chr17:75727760 C>T

Associated Papers

High prevalence of extracutaneous involvement in ITG junctional epidermolysis bullosa.

Bonigen J et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

39969087 (PubMed )

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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."