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UnknownNovel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.
Not available
S-EPMC12628750 | biostudies-literature
UnknownAn interaction map of circulating metabolites, immune gene networks, and their genetic regulation.
Not available
S-EPMC5540552 | biostudies-literature
UnknownAn intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Not available
S-EPMC9892775 | biostudies-literature
UnknownA prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.
Not available
S-EPMC12047251 | biostudies-literature
UnknownA CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Not available
S-EPMC11283466 | biostudies-literature
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