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BMJ Publishing Group, Journal of Medical Genetics, 5(52), p. 348-352

DOI: 10.1136/jmedgenet-2014-102934

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A homozygousPMS2founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

Journal article published in 2015 by Lili Li, Nancy Hamel, Kristi Baker, Michael J. McGuffin, Martin Couillard, Adrian Gologan, Victoria A. Marcus, Bernard Chodirker, Albert Chudley, Camelia Stefanovici, Anne Durandy, Robert A. Hegele, Bing-Jian Feng, David E. Goldgar, Jun Zhu and other authors.
This paper is available in a repository.
This paper is available in a repository.

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