{"schema_version":"1.0","canonical_url":"https://patentable.app/patents/US-9670544","patent":{"patent_number":"US-9670544","title":"CC2D2A gene mutations associated with Joubert syndrome and diagnostic methods for identifying the same","assignee":null,"inventors":[],"filing_date":"2015-06-29T00:00:00.000Z","publication_date":"2017-06-06T00:00:00.000Z","cpc_codes":["C12Q","G01N","C12Q","C12Q","C12Q","G01N","G01N"],"num_claims":11,"abstract":"The present invention provides a method of screening a subject for mutations in the CC2D2A gene that are associated with Joubert syndrome, an autosomal recessive form of mental retardation. The present invention also provides proteins that are associated with Joubert syndrome including proteins that includes an amino acid sequence that terminates in DHEGGSGMES (SEQ ID NO: 1). Also provided are nucleotide sequences encoding such proteins and methods of screening subjects to identify nucleotide sequences or proteins associated with Joubert syndrome."},"analysis":{"summary":null,"layman_explanation":null,"technical_analysis":null,"business_analysis":null,"faqs":null,"topics":[],"tech_cluster":null},"seo":{"title":"CC2D2A gene mutations associated with Joubert syndrome and diagnostic methods for identifying the same","description":"The present invention provides a method of screening a subject for mutations in the CC2D2A gene that are associated with Joubert syndrome, an autosomal recessive form of mental retardation. The presen","keywords":[]},"attribution":{"source":"Patentable","source_url":"https://patentable.app","canonical_url":"https://patentable.app/patents/US-9670544","license":"CC-BY-4.0-like","license_terms":"AI-generated analysis on this page (summary, layman_explanation, technical_analysis, business_analysis, faqs) may be reused with attribution and a visible link back to the canonical URL above. Patent abstracts, claims, and bibliographic data are USPTO public domain.","required_link":"https://patentable.app/patents/US-9670544","citation_suggestion":"Patentable. \"CC2D2A gene mutations associated with Joubert syndrome and diagnostic methods for identifying the same\" (US-9670544). https://patentable.app/patents/US-9670544","copyright_holder":"Nomic Interactive Technology LLC"},"links":{"html":"https://patentable.app/patents/US-9670544","json":"https://patentable.app/api/llm-context/US-9670544","site":"https://patentable.app","llms_txt":"https://patentable.app/llms.txt"},"generated_at":"2026-06-06T14:38:17.041Z"}