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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ataxia
Comorbidity C0039841|thiamine deficiency
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PubMedID- 21248734 thiamine deficiency forms part of numerous disorders including ataxia, confusion and impaired memory.29 interestingly, a recent study suggested a link between thiamine deficiency and syntactic and lexical disorder.30 the chromosome 7 peak also overlaps with the auts1 locus of linkage to autism31 and includes both the foxp2 and cntnap2 genes, both of which have previously been associated with language disorders.9, 32 the genotyping panels utilised in this study were optimised for linkage investigations and thus involve a relatively sparse map of snps (∼1snp every 500 kb).

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