Advances in genomics and genetics

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Advances in genomics and genetics - 最新文献

Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts.

Pub Date : 2018-01-01 DOI: 10.2147/AGG.S164047 Natasha Zr Steele, Alison R Bright, Suzee E Lee, Jamie C Fong, Luke W Bonham, Anna Karydas, Izabela D Karbassi, Mochtar Pribadi, Marc A Meservey, Matthew C Gallen, Eliana Marisa Ramos, Khalida Liaquat, Carol C Hoffman, Meagan R Krasner, Whitney Dodge, Bruce L Miller, Giovanni Coppola, Katherine P Rankin, Jennifer S Yokoyama, Joseph J Higgins

Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation.

Pub Date : 2018-01-01 DOI: 10.2147/AGG.S159077 Edith Schussler, Rita V Linkner, Jacob Levitt, Lakshmi Mehta, John A Martignetti, Kimihiko Oishi

Differences between the genomes of lymphoblastoid cell lines and blood-derived samples.

Pub Date : 2017-01-01 DOI: 10.2147/AGG.S128824 Lena M Joesch-Cohen, Gustavo Glusman

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