PMC Links for Nucleotide (Select 1812197650) - PMC

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Items: 4

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 65956792.

DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan

Lika’a Fasih Y. Al-Kzayer, Hanadi Munaf H. Al-Aradi, Tomonari Shigemura, Kenji Sano, Miyuki Tanaka, Motoharu Hamada, Kenan Hussien Ali, Osamah Mohammed Aldaghir, Yozo Nakazawa, Yusuke Okuno

BMC Med Genet. 2019; 20: 114. Published online 2019 Jun 26. doi: 10.1186/s12881-019-0837-4

PMCID:: PMC6595679

Abstract Article PDF–4.1M

Select item 62862533.

Expanded skin virome in DOCK8-deficient patients

Osnat Tirosh, Sean Conlan, Clay Deming, Shih-Queen Lee-Lin, Xin Huang, NISC Comparative Sequencing Program, Helen C. Su, Alexandra F. Freeman, Julia A. Segre, Heidi H. Kong

Nat Med. 2018; 24(12): 1815–1821. Published online 2018 Nov 5. doi: 10.1038/s41591-018-0211-7