A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).
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| Title: | A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project). |
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| Authors: | Leggatt, Gary1,2,3 (AUTHOR) G.Leggatt@soton.ac.uk, Cheng, Guo1 (AUTHOR), Narain, Sumit1 (AUTHOR), Briseño-Roa, Luis4 (AUTHOR), Annereau, Jean-Philippe4 (AUTHOR), Ambrose, J. C.5 (AUTHOR), Arumugam, P.5 (AUTHOR), Bevers, R.5 (AUTHOR), Bleda, M.5 (AUTHOR), Boardman-Pretty, F.5,6 (AUTHOR), Boustred, C. R.5 (AUTHOR), Brittain, H.5 (AUTHOR), Brown, M. A.5 (AUTHOR), Caulfield, M. J.5,6 (AUTHOR), Chan, G. C.5 (AUTHOR), Giess, A.5 (AUTHOR), Griffin, J. N.7 (AUTHOR), Hamblin, A.5 (AUTHOR), Henderson, S.5,6 (AUTHOR), Hubbard, T. J. P.5 (AUTHOR) |
| Source: | Scientific Reports. 6/9/2023, Vol. 13 Issue 1, p1-12. 12p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 20452322 |
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| DOI: | 10.1038/s41598-023-32169-4 |
