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The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT>GC Variants Differ Markedly from Those Predicted

Archive ouverte | Chen, Jian-Min | CCSD

International audience. Introduction: 5' splice site GT>GC or +2T>C variants have been frequently reported to cause human genetic disease and are routinely scored as pathogenic splicing mutations. However, we have r...

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

Archive ouverte | Lin, Jin‐huan | CCSD

International audience. 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 noncanonical GC dinucleotide. The functionali...

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

Archive ouverte | Tang, Xin-Ying | CCSD

International audience. Background: The clinical significance of SPINK1 intronic variants in chronic pancreatitis has been previously assessed by various approaches including a cell culture-based full-length gene as...

Chargement des enrichissements...