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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITGB3

Variant:p.K715fs

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ITGB3

NM_000212.3:p.K715fs

hg38:chr17:47307479 AAG>N

Associated Papers

Novel homozygous frameshift mutation of ITGB3 in the Glanzmann thrombasthenia patient with abnormal bone metabolism and congenital bone defects.

Luo Y et al.

Orphanet Journal of Rare Diseases, 2025

40251671 (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."