Associated Papers
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Exome sequencing for diagnosis of congenital hemolytic anemia.
Mansour-Hendili L et al.
Orphanet Journal of Rare Diseases, 2020
NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.
Wang B et al.
Scientific Reports, 2018
29662108 (PubMed )
Supplement: 41598_2018_24286_MOESM1_ESM.pdf
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
Punzo F et al.
Orphanet Journal of Rare Diseases, 2011
CDAII presenting as hydrops foetalis: molecular characterization of two cases.
Fermo E et al.
Blood Cells, Molecules & Diseases, 2010
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.
Iolascon A et al.
Haematologica, 2010
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
Schwarz K et al.
Nature Genetics, 2009
Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.
Aldave AJ et al.
Cornea, 2009
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