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| Intellectual disability v8.210 | C1QC | Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39196411 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.210 | C1QC | Achchuthan Shanmugasundram Publications for gene: C1QC were set to 39196411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.209 | C1QC |
Achchuthan Shanmugasundram gene: C1QC was added gene: C1QC was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: C1QC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QC were set to 39196411 Phenotypes for gene: C1QC were set to C1q deficiency 3, OMIM:620322 Review for gene: C1QC was set to RED Added comment: PMID:39196411 reported 12 patients with C1q deficiency, of which one was identified with homozygous variant in C1QC gene (p.(Arg69Ter)). Intellectual impairment was reported in this patient. Sources: Literature |
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