Variants found in patients with corresponding phenotypes.

<p>Variants found in patients with corresponding phenotypes.</p>

محفوظ في:

التفاصيل البيبلوغرافية
المؤلف الرئيسي:	Élisa Michel (22446186) (author)
مؤلفون آخرون:	Claudia Moreau (421048) (author), Laurence Gagnon (20114225) (author), Mylène Gagnon (22446189) (author), Josianne Leblanc (12508927) (author), Jessica Tardif (5992223) (author), Lysanne Girard (12508921) (author), Jean Mathieu (176827) (author), Cynthia Gagnon (3554621) (author), Mathieu Desmeules (12508936) (author), Jean-Denis Brisson (22446192) (author), Luigi Bouchard (724712) (author), Simon L. Girard (17054561) (author)
منشور في:	2025
الموضوعات:	Microbiology Ecology Sociology Virology Environmental Sciences not elsewhere classified Biological Sciences not elsewhere classified Mathematical Sciences not elsewhere classified saguenay &# 8211 rare disease prevalence five variants found certain pathogenic variants 12 pathogenic variants rare diseases load patients &# 8217 identified founder variants carrier rates estimates founder effect followed urban quebec regions could aid clinicians founder effect studied variants severe diseases diagnosed patients carrier testing carrier test shared identical rapid expansion potential underestimation diagnostic efforts descent segments common due clinical interest based approach also observed
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