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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTLA4

Variant:p.L114F

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CTLA4

NM_005214.5:p.L114F

hg38:chr2:203870816 C>T

Associated Papers

Atypical Presentations of IPEX: Expect the Unexpected.

Consonni F et al.

Frontiers in Pediatrics, 2021

33614561 (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."