Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.Q154_N155insFs
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ITGB4

NM_000213.5:p.Q154_N155insFs

Associated Papers

Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

Christiano AM et al.

Prenatal Diagnosis, 1997

Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.

Kivirikko S et al.

Human Molecular Genetics, 1996

Molecular complexity of the cutaneous basement membrane zone.

Uitto J et al.

Molecular Biology Reports, 1996

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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."