Zobrazeno 1 - 2
of 2
pro vyhledávání: '"L. F. Paulin"'
Autor:
S. Behera, J. R. Belyeu, X. Chen, L. F. Paulin, N.Q.H. Nguyen, E. Newman, M. Mahmoud, V. K. Menon, Q. Qi, P. Joshi, S. Marcovina, M. Rossi, E. Roller, J. Han, V. Onuchic, C. L. Avery, C.M. Ballantyne, C. J. Rodriguez, R. C. Kaplan, D. M. Muzny, G. A. Metcalf, R. Gibbs, B. Yu, E. Boerwinkle, M. A. Eberle, F. J. Sedlazeck
The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-region. KIV-2 is highly polymorphic in the population and accurate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::85bbf3320da8392141ddacde5072d918
https://doi.org/10.1101/2023.04.24.538128
https://doi.org/10.1101/2023.04.24.538128
Autor:
S. Behera, J. LeFaive, P. Orchard, M. Mahmoud, L. F. Paulin, J. Farek, D. C. Soto, Stephen C.J. Parker, A. V. Smith, M. Y. Dennis, J. M. Zook, F.J. Sedlazeck
The GRCh38 reference is the current standard in human genomics research and clinical applications, but includes errors across 33 protein-coding genes, including 12 with medical relevance. Current studies rely on the correctness of this reference geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::605294c9dcd8716941e31ab3f6a5e29d
https://doi.org/10.1101/2022.07.18.500506
https://doi.org/10.1101/2022.07.18.500506