Associated Papers
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › gnomAD
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
Yang JH et al.
Journal of Human Genetics, 2012
[Loeys-Dietz syndrome with acute myeloid leukemia].
Togashi Y et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2008
A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
Togashi Y et al.
Internal Medicine (tokyo, Japan), 2007
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