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UnknownHigh prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
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S-EPMC1288316 | biostudies-literature
UnknownSpinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.
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S-EPMC1177950 | biostudies-literature
UnknownNovel APP/Aβ mutation K16N produces highly toxic heteromeric Aβ oligomers.
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S-EPMC3407951 | biostudies-literature
UnknownThe use of diagnostic tools to assess the risks of chemicals to freshwater ecosystems: towards a unified evaluation framework.
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S-EPMC12575600 | biostudies-literature
UnknownCancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
Not available
S-EPMC4402457 | biostudies-literature
UnknownThe bii4africa dataset of faunal and floral population intactness estimates across Africa's major land uses.
Not available
S-EPMC10861571 | biostudies-literature
UnknownGlobal maps of soil temperature.
Not available
S-EPMC9303923 | biostudies-literature
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