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unverified.","entity":null},{"dimension":"evidence-scope","value_text":"Clinical genetics","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"evidence_locator","value_text":"Abstract","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"evidence_spans","value_text":"[{\"source_document\": \"artifacts/thiamine_transport_sources/zeng-2005-slc19a3-genetics-source-record.json\", \"source_field\": \"resultList.result[0].abstractText\", \"start_char\": 0, \"end_char\": 1170}]","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Affected families; linkage mapping and sequence analysis.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Clinical response to biotin does not identify its molecular action.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Thiamine research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"thiamine","display_name":"Thiamine (vitamin B1)","entity_type_key":"small_molecule"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Inherited B1-transporter defects can cause severe neurological disease.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[zeng-2005-slc19a3-genetics] Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3 (2005). https://pubmed.ncbi.nlm.nih.gov/15871139/ DOI: 10.1086/431216","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Clinical genetics","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"35fc7f9b-4920-59a5-9538-7cfde1b8dea9","evidence_kind":"source_excerpt","locator":"Lines 325-337","start_line":325,"end_line":337,"excerpt":"### b1-slc19a3-inherited-basal-ganglia\nFamily mapping identified recessive SLC19A3 variants in the disorder then called biotin-responsive basal ganglia disease.\nCondition category: machinery_impairment\nnutrient_topic: Thiamine research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Inherited B1-transporter defects can cause severe neurological disease.\norganism: Homo sapiens\ntissue_or_cell_type: Clinical genetics\nexperimental_model: Affected families; linkage mapping and sequence analysis.\nlimitations: Clinical response to biotin does not identify its molecular action.\nevidence_spans: [{\"source_document\": \"artifacts/thiamine_transport_sources/zeng-2005-slc19a3-genetics-source-record.json\", \"source_field\": \"resultList.result[0].abstractText\", \"start_char\": 0, \"end_char\": 1170}]\nevidence_locator: Abstract\nevidence-scope: Clinical genetics\n[zeng-2005-slc19a3-genetics] Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3 (2005). https://pubmed.ncbi.nlm.nih.gov/15871139/ DOI: 10.1086/431216","model_system":"Affected families; 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Study references: [zeng-2005-slc19a3-genetics] Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3 (2005). https://pubmed.ncbi.nlm.nih.gov/15871139/ DOI: 10.1086/431216","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"158d2c03-ac8c-589f-8270-c468165ae346","stable_key":"import-46d15d9e-d3b5-544d-ba01-b785aa3e4f42","title":"Thiamine: mechanisms, deficiency and nutrient interactions (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"f376512fb3310141315548015b387833e3af45146e73fb73cd02cee20e4ddb9c","revision_id":"53bc5eda-dec8-58cc-a56f-a9eb4ab036ef","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}