A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue

Kurolap, Alina; Barel, Dalit; Shaul Lotan, Nava; Wexler, Isaiah; Chai Gadot, Chofit; Mory, Adi; Barel, Ortal; Almashanu, Shlomo; Baris Feldman, Hagit

doi:10.1016/j.ymgme.2023.107702

Molecular Genetics and Metabolism

2023

DOI: 10.1016/j.ymgme.2023.107702

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A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue

Alina Kurolap,

Dalit Barel,

Nava Shaul Lotan

et al.

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A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue

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References 14 publications

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