The expansion of unstable genomic short tandem repeats (STRs) causes more than 30 Mendelian human disorders 5. An extended GGGGCC repeat (G 4 C 2) n, within the C9orf72 gene is the most frequent ...
Expanded repetitive sequences are infamous for causing inherited disease. Think poly-Q tracts that cause Huntington’s or the C9orf72 hexanucleotide run-ons that trigger ALS/FTD. However, given people ...
Repeats of DNA sequences, often referred to as "junk DNA" or "dark matter," that are found in chromosomes and could contribute to cancer or other diseases have been challenging to identify and ...
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