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Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS

Hossein Jafari Khamirani, Sina Zoghi, Ali Saber Sichani, Mehdi Dianatpour, Sanaz Mohammadi, Kaoru Tabei, Seyed Alireza Dastgheib

2021Journal of Genetics12 citationsDOI

Topics & Concepts

Frameshift mutationProbandExome sequencingSanger sequencingBiologyHypotoniaGeneticsMutationGeneNeurological diseases and metabolismConnective tissue disorders researchMetalloenzymes and iron-sulfur proteins
Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS | Litcius