A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes.

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Title: A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes.
Authors: MacArthur, Daniel G.1,2 macarthur@atgu.mgh.harvard.edu, Balasubramanian, Suganthi3,4, Frankish, Adam1, Ni Huang1, Morris, James1, Walter, Klaudia1, Jostins, Luke1, Habegger, Lukas3,4, Pickrell, Joseph K.5, Montgomery, Stephen B.6,7,8, Albers, Cornelis A.1,9, Zhang, Zhengdong D.10, Conrad, Donald F.11, Lunter, Gerton12, Hancheng Zheng13, Ayub, Qasim1, DePristo, Mark A.14, Banks, Eric14, Min Hu1, Handsaker, Robert E.14,15
Source: Science (pre-March 2025). 2/17/2012, Vol. 335 Issue 6070, p823-828. 6p.
Database: Academic Search Ultimate
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  Data: <searchLink fieldCode="JN" term="%22Science+%28pre-March+2025%29%22">Science (pre-March 2025)</searchLink>. 2/17/2012, Vol. 335 Issue 6070, p823-828. 6p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=72661433
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