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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | ERCC4 |
Louise Daugherty gene: ERCC4 was added gene: ERCC4 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 32086639; 32048120 Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272; Bone marrow failure; Fanconi Anemia Type Q; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage |
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