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A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome

Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, Sachiko Miyamoto, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu

2023Journal of Human Genetics10 citationsDOI

Topics & Concepts

BiologyGeneticsExome sequencingExonIntronJoubert syndromeRNA splicingDeep sequencingGenomeGeneMutationRNAGenetic and Kidney Cyst DiseasesProtist diversity and phylogenyHedgehog Signaling Pathway Studies
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome | Litcius