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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA12

Variant:p.Y1099_K1101del3

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ABCA12

NM_173076.3:p.Y1099_K1101del3

hg38:chr2:214991022 TCTTCATGTA>T

Associated Papers

New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis.

Umemoto H et al.

Journal of Dermatological Science, 2011

21168995 (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."