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

Autor: 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)
Zdroj: Scientific Reports. 6/9/2023, Vol. 13 Issue 1, p1-12. 12p.
Databáze: Academic Search Ultimate
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