Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

A major goal of biomedicine is to understand the function of every gene in the human genome.(1) Loss-of-function (LoF) mutations can disrupt both copies of a given gene in humans and phenotypic analysis of such ‘human knockouts’ can provide insight into gene function. Consanguineous unions are more...

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Argitaratua izan da:Nature
Egile Nagusiak: Saleheen, Danish, Natarajan, Pradeep, Armean, Irina M., Zhao, Wei, Rasheed, Asif, Khetarpal, Sumeet, Won, Hong-Hee, Karczewski, Konrad J., O’Donnell-Luria, Anne H., Samocha, Kaitlin E., Weisburd, Benjamin, Gupta, Namrata, Zaidi, Mozzam, Samuel, Maria, Imran, Atif, Abbas, Shahid, Majeed, Faisal, Ishaq, Madiha, Akhtar, Saba, Trindade, Kevin, Mucksavage, Megan, Qamar, Nadeem, Zaman, Khan Shah, Yaqoob, Zia, Saghir, Tahir, Rizvi, Syed Nadeem Hasan, Memon, Anis, Mallick, Nadeem Hayyat, Ishaq, Mohammad, Rasheed, Syed Zahed, Memon, Fazal-ur-Rehman, Mahmood, Khalid, Ahmed, Naveeduddin, Do, Ron, Krauss, Ronald M., MacArthur, Daniel G., Gabriel, Stacey, Lander, Eric S., Daly, Mark J., Frossard, Philippe, Danesh, John, Rader, Daniel J., Kathiresan, Sekar
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2017
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Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5600291/
https://ncbi.nlm.nih.gov/pubmed/28406212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature22034
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