Associated Papers
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C
A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.
Mohamadian M et al.
Journal of Clinical Laboratory Analysis, 2020
33079427 (PubMed )
Supplement: JCLA-34-e23484-s001.xlsx › Sheet2
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
Increased blood pressure and hyperdynamic cardiovascular responses in carriers of a common hyperfunctional variant of adenylyl cyclase 6.
Hodges GJ et al.
The Journal of Pharmacology and Experimental Therapeutics, 2010
Increased enzyme activity and beta-adrenergic mediated vasodilation in subjects expressing a single-nucleotide variant of human adenylyl cyclase 6.
Gros R et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2007
Identification of a dysfunctional missense single nucleotide variant of human adenylyl cyclase VI.
Gros R et al.
Clinical Pharmacology and Therapeutics, 2005
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