Associated Papers
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
Helm BM et al.
Human Genomics, 2017
28724397 (PubMed )
Supplement: 40246_2017_111_MOESM1_ESM.pdf
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Santín S et al.
Kidney International, 2009
Select a paper to view details