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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Nov 3, 2024. (Total: 233167Documents)
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Query Trace: Microphthalmia Syndromic 4[original query]
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Human genetics 2018 7 137 (9): 689-703.
Du Renqian, Dinckan Nuriye, Song Xiaofei, Coban-Akdemir Zeynep, Jhangiani Shalini N, Guven Yeliz, Aktoren Oya, Kayserili Hulya, Petty Lauren E, Muzny Donna M, Below Jennifer E, Boerwinkle Eric, Wu Nan, Gibbs Richard A, Posey Jennifer E, Lupski James R, Letra Ariadne, Uyguner Z O
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