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A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

Title:	A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
Authors:	Leggatt, Gary^{Aff1, Aff3, Aff5, IDs41598023321694_cor1}; Cheng, Guo^Aff1; Narain, Sumit^Aff1; Briseño-Roa, Luis^Aff2; Annereau, Jean-Philippe^Aff2; Gast, Christine^{Aff1, Aff3}; Gilbert, Rodney D.^{Aff1, Aff4}; Ennis, Sarah^Aff1; Ambrose, J. C.^Aff6; Arumugam, P.^Aff6; Bevers, R.^Aff6; Bleda, M.^Aff6; Boardman-Pretty, F.^{Aff6, Aff7}; Boustred, C. R.^Aff6; Brittain, H.^Aff6; Brown, M. A.^Aff6; Caulfield, M. J.^{Aff6, Aff7}; Chan, G. C.^Aff6; Giess, A.^Aff6; Griffin, J. N.^Aff8; Hamblin, A.^Aff6; Henderson, S.^{Aff6, Aff7}; Hubbard, T. J. P.^Aff6; Jackson, R.^Aff6; Jones, L. J.^{Aff6, Aff7}; Kasperaviciute, D.^{Aff6, Aff7}; Kayikci, M.^Aff6; Kousathanas, A.^Aff6; Lahnstein, L.^Aff6; Lakey, A.^Aff6; Leigh, S. E. A.^Aff6; Leong, I. U. S.^Aff6; Lopez, F. J.^Aff6; Maleady-Crowe, F.^Aff6; McEntagart, M.^Aff6; Minneci, F.^Aff6; Mitchell, J.^Aff6; Moutsianas, L.^{Aff6, Aff7}; Mueller, M.^{Aff6, Aff7}; Murugaesu, N.^Aff6; Need, A. C.^{Aff6, Aff7}; O‘Donovan, P.^Aff6; Odhams, C. A.^Aff6; Patch, C.^{Aff6, Aff7}; Perez-Gil, D.^Aff6; Pereira, M. B.^Aff6; Pullinger, J.^Aff6; Rahim, T.^Aff6; Rendon, A.^Aff6; Rogers, T.^Aff6; Savage, K.^Aff6; Sawant, K.^Aff6; Scott, R. H.^Aff6; Siddiq, A.^Aff6; Sieghart, A.^Aff6; Smith, S. C.^Aff6; Sosinsky, A.^{Aff6, Aff7}; Stuckey, A.^Aff6; Tanguy, M.^Aff6; Tavares, A. L. Taylor^Aff6; Thomas, E. R. A.^{Aff6, Aff7}; Thompson, S. R.^Aff6; Tucci, A.^{Aff6, Aff7}; Welland, M. J.^Aff6; Williams, E.^Aff6; Witkowska, K.^{Aff6, Aff7}; Wood, S. M.^{Aff6, Aff7}; Zarowiecki, M.^Aff6
Source:	Scientific Reports. 13(1)
Database:	Springer Nature Journals