未登录A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype
Li, Lili; Hamel, Nancy; Baker, Kristi; McGuffin, Michael J.; Couillard, Martin; Gologan, Adrian; Marcus, Victoria A.; Chodirker, Bernard; Chudley, Albert; Stefanovici, Camelia; Durandy, Anne; Hegele, Robert A.; Feng, Bing-Jian; Goldgar, David E.; Zhu, Jun; De Rosa, Marina; Gruber, Stephen B.; Wimmer, Katharina; Young, Barbara; Chong, George; Tischkowitz, Marc D.; Foulkes, William D.
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