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
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
PAPER Wang H, Xing J, Grover D, Hedges DJ, Han K, Walker JA, Batzer MA
J Mol Biol. 2005 Dec 9;354(4):994-1007. Epub 2005 Oct 19 PubMed.