Associated Papers
Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.
Janicki PK et al.
Molecular Medicine Reports, 2019
30816480 (PubMed )
Supplement: supplement_2.pdf
Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.
Pytel V et al.
Brain and Behavior, 2019
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Shankar GM et al.
Acta Neuropathologica Communications, 2014
25589003 (PubMed )
Supplement: 40478_2014_167_MOESM1_ESM.xlsx › Supplementary_Table_6
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.
Preeprem T et al.
Biodata Mining, 2013
24365473 (PubMed )
Supplement: 1756-0381-6-24-S2.xlsx › Additional_Table_4
Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations.
Tzur S et al.
Bmc Nephrology, 2012
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
Aminoff M et al.
Nature Genetics, 1999
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