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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD40

Variant:p.K230N

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CD40

NM_001250.6:p.K230N

hg38:chr20:46128896 G>T

Associated Papers

Genetics of COPA syndrome.

Kumrah R et al.

The Application of Clinical Genetics, 2019

30804679 (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."