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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA1E

Variant:p.R852_S855delFs

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CACNA1E

NM_001205293.3:p.R852_S855delFs

hg38:chr1:181732641 GTGGGGGGT>G

Associated Papers

NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature.

Shi C et al.

Medicine, 2016

27749582 (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."