Associated Papers
5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity.
Lin JH et al.
Human Mutation, 2020
Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M et al.
Genome Biology, 2016
27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM3_ESM.pdf
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