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1 records shown · first 60Mutations in BTD causing biotinidase deficiency.
PMID 11668630 | DOI 10.1002/humu.1208 · Human mutation · 2001 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | D444H | “Partial BTD deficiency (10-30% of mean normal serum activity) is predominantly caused by the single 1330G>C mutation that results in D444H on one allele in combination with one of the mutations causing profound deficiency on the other allele.” | 0.82 | literature_variant_regex_v2 |
| gene | BTD | “Mutations in BTD causing biotinidase deficiency.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Two mutations, 98-104del7ins3 and R538C, were present in 52% or 31 of 60 alleles found in symptomatic patients. Additional different mutations have been found in Turkish, Saudi Arabian, and Japanese children with profound BTD deficiency.” | 0.95 | saudi_context_rules_v1 |
| variant | R538C | “Two mutations, 98-104del7ins3 and R538C, were present in 52% or 31 of 60 alleles found in symptomatic patients.” | 0.82 | literature_variant_regex_v2 |