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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BLOC1S3

Variant:p.L113delFs

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BLOC1S3

NM_212550.5:p.L113delFs

hg38:chr19:45179632 GC>G

Associated Papers

Congenital platelet disorders and understanding of platelet function.

Nurden AT et al.

British Journal of Haematology, 2014

24286193 (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."