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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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1 records shown · first 60Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function.
PMID 15308610 | DOI 10.1210/en.2004-0080 · Endocrinology · 2004 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | I268T | “Analysis of her VDR gene revealed a homozygous T to C mutation in exon 7 that changed isoleucine to threonine at amino acid 268 (I268T).” | 0.82 | literature_variant_regex_v2 |
| gene | VDR | “Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by mutations in the vitamin D receptor (VDR).” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “We studied a young Saudi Arabian girl who exhibited the typical clinical features of HVDRR, but without alopecia.” | 0.95 | saudi_context_rules_v1 |