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

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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Bibliographische Detailangaben
Hauptverfasser: Cadieux-Dion, Maxime, Safina, Nicole, Engleman, Kendra, Saunders, Carol, Repnikova, Elena, Raje, Nikita, Canty, Kristi, Farrow, Emily, Miller, Neil, Zellmer, Lee, Thiffault, Isabelle
Format: Bild
Sprache:eng
Schlagworte:
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
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Beschreibung
Zusammenfassung: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:10.6084/m9.figshare.5969560