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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITGB3

Variant:p.S595fs

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ITGB3

NM_000212.3:p.S595fs

hg38:chr17:47299400 TCC>N

Associated Papers

A Novel Homozygous Frameshift Mutation in ITGB3 Causes Glanzmann's Thrombasthenia.

Li X et al.

Acta Haematologica, 0

34404052 (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."