5 ' splice site GC > GT and GT > GC variants differ markedly in terms of their functionality and pathogenicity

Lin, JH; Masson, E; Boulling, A; Hayden, M; Cooper, DN; Ferec, C; Liao, Z; Chen, JM

Chen, JM (corresponding author), Fac Med, INSERM U1078, Batiment E,2eme Etage,Bur E201b, F-29238 Brest 3, France.

HUMAN MUTATION, 2020; 41 (8): 1358

Abstract

In the human genome, most 5 ' splice sites (similar to 99%) employ the canonical GT dinucleotide whereas a small minority (similar to 1%) use the nonc......

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