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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GPI

Variant:p.M338_Y341del0

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GPI

NM_000175.5:p.M338_Y341del0

hg38:chr19:34394015 CATGCTGCCCTAT>C

Associated Papers

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL et al.

Nature Communications, 2018

30315159 (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."