ClinGen Allele Registry links information about genetic variants

Effective exchange of information about genetic variants is currently hampered by the lack of readily available globally unique variant identifiers that would enable aggregation of information from different sources. The ClinGen Allele Registry addresses this problem by providing (1) globally unique...

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Bibliografski detalji
Izdano u:Hum Mutat
Glavni autori: Pawliczek, Piotr, Patel, Ronak Y., Ashmore, Lillian R., Jackson, Andrew R., Bizon, Chris, Nelson, Tristan, Powell, Bradford, Freimuth, Robert R., Strande, Natasha, Shah, Neethu, Paithankar, Sameer, Wright, Matt W., Dwight, Selina, Zhen, Jimmy, Landrum, Melissa, McGarvey, Peter, Babb, Larry, Plon, Sharon E., Milosavljevic, Aleksandar
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2018
Teme:
Special Issue Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6519371/
https://ncbi.nlm.nih.gov/pubmed/30311374
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23637
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