Concepedia

Early-onset emphysema in a large French-Canadian family: a genetic investigation

Yohan Bossé, Maxime Lamontagne, Nathalie Gaudreault, Christine Racine, Marie‐Hélène Lévesque, Benjamin M. Smith, Dominique Auger, Alisson Clemenceau, Marie‐Ève Paré, Louis Laviolette,

The Lancet Respiratory Medicine · 2019 · 29 citations · 22 references

DOI

Concepts

References

22

A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

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Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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The Electrophoretic α; <sub>1</sub> -Globulin Pattern of Serum in α; <sub>1</sub> -Antitrypsin Deficiency

C.‐B. Laurell, Sten Eriksson · Scandinavian Journal of Clinical and Laboratory Investigation · 1963 · 1.4K citations

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M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

Karthik A. Jagadeesh, Aaron M. Wenger, Mark J. Berger et al. · Nature Genetics · 2016 · 917 citations

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