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Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

Spontaneously arising mouse mutations have served as the foundation for understanding gene function for more than 100 years. We have used exome sequencing in an effort to identify the causative mutations for 172 distinct, spontaneously arising mouse models of Mendelian disorders, including a broad r...

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Библиографические подробности
Опубликовано в: :Genome Res
Главные авторы: Fairfield, Heather, Srivastava, Anuj, Ananda, Guruprasad, Liu, Rangjiao, Kircher, Martin, Lakshminarayana, Anuradha, Harris, Belinda S., Karst, Son Yong, Dionne, Louise A., Kane, Coleen C., Curtain, Michelle, Berry, Melissa L., Ward-Bailey, Patricia F., Greenstein, Ian, Byers, Candice, Czechanski, Anne, Sharp, Jocelyn, Palmer, Kristina, Gudis, Polyxeni, Martin, Whitney, Tadenev, Abby, Bogdanik, Laurent, Pratt, C. Herbert, Chang, Bo, Schroeder, David G., Cox, Gregory A., Cliften, Paul, Milbrandt, Jeffrey, Murray, Stephen, Burgess, Robert, Bergstrom, David E., Donahue, Leah Rae, Hamamy, Hanan, Masri, Amira, Santoni, Federico A., Makrythanasis, Periklis, Antonarakis, Stylianos E., Shendure, Jay, Reinholdt, Laura G.
Формат: Artigo
Язык:Inglês
Опубликовано: Cold Spring Harbor Laboratory Press 2015
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4484392/
https://ncbi.nlm.nih.gov/pubmed/25917818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.186882.114
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