Associated Papers
Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis.
Cai J et al.
Signal Transduction and Targeted Therapy, 2024
39307879 (PubMed )
Supplement: 41392_2024_1960_MOESM6_ESM.xlsx › Table_S5
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.
Li Q et al.
Bmc Medical Genomics, 2022
35864542 (PubMed )
Supplement: 12920_2022_1315_MOESM2_ESM.xlsx › RawData
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
García-García G et al.
Molecular Vision, 2012
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
Fields RR et al.
American Journal of Human Genetics, 2002
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