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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITGB4

Variant:p.E1341_D1342insT

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ITGB4

NM_000213.5:p.E1341_D1342insT

hg38:chr17:75752490 G>GNNN

Associated Papers

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.

Kariminejad A et al.

American Journal of Medical Genetics. Part A, 2019

31184804 (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."