1792 RESULTS
MUTATIONS SORL1 121562211 GRCh38/hg38 rs76604503 C T 121432920 GRCh37/hg19 rs76604503 C T Intron 21 Non-Coding c.3049+2554C>T Alzheimer's Disease This variant is one of 31 intronic variants in SORL1 that compose a haplotype associated with a reduced risk of
Canada
COMMENT To some extent, repeat expansions have been the dark matter of human disease. They are generally missed by SNP arrays and by short-read sequencing technologies and it is only with long-read sequencing we can see them and also appreciate their high mutatio
RESEARCH NEWS 2025-02-12 Research News 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 have an estimated 1 million short tandem
Amsterdam UMC
PAPER Wang H, Xing J, Grover D, Hedges DJ, Han K, Walker JA, Batzer MA
United States
