Associated Papers
A role for mutations in AK9 and other genes affecting ependymal cells in idiopathic normal pressure hydrocephalus.
Yang HW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Rio-Machin A et al.
Nature Communications, 2020
32098966 (PubMed )
Supplement: 41467_2020_14829_MOESM11_ESM.xlsx › ST_8__Candidate_genes
Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.
Diao H et al.
Medicine, 2018
30431579 (PubMed )
Supplement: medi-97-e13117-s002.xlsx › Sheet1
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