Associated Papers
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Akbari P et al.
Nature Communications, 2022
35999217 (PubMed )
Supplement: 41467_2022_32398_MOESM4_ESM.xlsx › Supp._Data_14
The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants.
Theisen JG et al.
Scientific Reports, 2019
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.
Lesca G et al.
European Journal of Human Genetics : Ejhg, 2008
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
Lesca G et al.
Human Mutation, 2004
Disease-associated mutations in conserved residues of ALK-1 kinase domain.
Abdalla SA et al.
European Journal of Human Genetics : Ejhg, 2003
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