347685 RESULTS
MUTATIONS SORL1 121563217 GRCh38/hg38 rs80256323 C A 121433926 GRCh37/hg19 rs80256323 C A Intron 21 Non-Coding c.3049+3560C>A Alzheimer's Disease This variant is one of 31 intronic variants in SORL1 that compose a haplotype associated with a reduced risk of
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
PAPER Ko J, Park S
PAPER Zeng JY, Huang HW, Zhuang SP, Wu Y, Chen S, Zou ZY, Chen HJ
PAPER Ando M, Higuchi Y, Yuan JH, Yoshimura A, Yano C, Hobara T, Kojima F, Hiramatsu Y, Nozuma S, Nakamura T, Sakiyama Y, Hashiguchi A, Okamoto Y, Matsushige T, Mitsui J, Tsuji S, Takashima H
PAPER Cheng H
PAPER Salunkhe SY, Chavan MS
PAPER Zheng CB, Wu LZ, Song WY, Luo L, Cai JT, Huang ZH, Tian KQ
PAPER El Haj M, Gallouj K, Antoine P, Chapelet G
