Litcius/Paper detail

Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing

Takeshi Mizuguchi, Nobuhiko Okamoto, Keiko Yanagihara, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Noriko Miyake, Naomichi Matsumoto

2020Genomics19 citationsDOI

Topics & Concepts

BiologyGeneticsExome sequencingChromosomal inversionHaplotypeCopy-number variationDNA sequencingIntellectual disabilityGenomeChromosomeGeneGenotypeKaryotypeMutationGenomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesGenetics and Neurodevelopmental Disorders
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing | Litcius