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CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease.
medRxiv [Preprint]. 2024 Apr 5:2024.04.05.24304760. doi: 10.1101/2024.04.05.24304760.
medRxiv. 2024.
PMID: 38633811
Free PMC article.
Preprint.
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
Gustafson JA, Gibson SB, Damaraju N, Zalusky MP, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson Z, Storz SH, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; McCombie WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE.
Gustafson JA, et al. Among authors: zalusky mp.
medRxiv [Preprint]. 2024 Mar 7:2024.03.05.24303792. doi: 10.1101/2024.03.05.24303792.
medRxiv. 2024.
PMID: 38496498
Free PMC article.
Preprint.
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