Varaico: Literature-Extracted Genetic Variants

Gene:CARD8
Variant:p.V148fs
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CARD8

NM_001184900.3:p.V148fs

Associated Papers

Case Report: Identification of a CARD8 variant in all three patients with PFAPA syndrome complicated with Kawasaki disease.

Nakamura H et al.

Frontiers in Pediatrics, 2024

The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.

Bachetti T et al.

International Journal of Molecular Sciences, 2021

33917126 (PubMed )
Supplement: ijms-22-03831-s001.zip › TableS1_IJMS_Lantieri.xlsx › Sheet1

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1
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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."