Additional file 2: of Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report
Figure S2. The protein is composed of a protein kinase domain (orange), a leucine zipper region (green) and the NEMO binding-region (blue). Missense (gray) and loss of function (red) pathogenic variants found in the CHUK gene. Reported in this study (Bold). (TIFF 128 kb)
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| creator | Cadieux-Dion, Maxime Safina, Nicole Engleman, Kendra Saunders, Carol Repnikova, Elena Raje, Nikita Canty, Kristi Farrow, Emily Miller, Neil Zellmer, Lee Thiffault, Isabelle |
| description | Figure S2. The protein is composed of a protein kinase domain (orange), a leucine zipper region (green) and the NEMO binding-region (blue). Missense (gray) and loss of function (red) pathogenic variants found in the CHUK gene. Reported in this study (Bold). (TIFF 128 kb) |
| doi_str_mv | 10.6084/m9.figshare.5969560 |
| format | Image |
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The protein is composed of a protein kinase domain (orange), a leucine zipper region (green) and the NEMO binding-region (blue). Missense (gray) and loss of function (red) pathogenic variants found in the CHUK gene. Reported in this study (Bold). 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The protein is composed of a protein kinase domain (orange), a leucine zipper region (green) and the NEMO binding-region (blue). Missense (gray) and loss of function (red) pathogenic variants found in the CHUK gene. Reported in this study (Bold). 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The protein is composed of a protein kinase domain (orange), a leucine zipper region (green) and the NEMO binding-region (blue). Missense (gray) and loss of function (red) pathogenic variants found in the CHUK gene. Reported in this study (Bold). (TIFF 128 kb)</abstract><pub>figshare</pub><doi>10.6084/m9.figshare.5969560</doi><oa>free_for_read</oa></addata></record> |
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| subjects | Biological Sciences not elsewhere classified Computational Biology Developmental Biology FOS: Biological sciences FOS: Clinical medicine FOS: Health sciences Genetics Immunology Infectious Diseases Medicine Molecular Biology Virology |
| title | Additional file 2: of Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report |
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