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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSC

Variant:p.S428_T431ins1

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CTSC

NM_001814.6:p.S428_T431ins1

hg38:chr11:88294104 C>CGGTGCCCCAGCT

Associated Papers

Novel compound heterozygous mutation in CTSC gene with response to ustekinumab.

Latour-Álvarez I et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

36740595 (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."