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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC12

Variant:p.R45G

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CCDC12

NM_001277074.2:p.R45G

hg38:chr3:46941029 T>C

Associated Papers

SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis.

Martinelli G et al.

Leukemia, 2018

28663576 (PubMed )

Supplement: leu2017183x1.docx

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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."