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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITGB4

Variant:p.S306fs

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ITGB4

NM_000213.5:p.S306fs

hg38:chr17:75730418 TCG>N

Associated Papers

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

23917088 (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."