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American Journal of Human Genetics|April 10, 2012
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndromeAdi Mory, Efrat Dagan, Barbara Illi, et al.
American Journal of Human Genetics|September 3, 2011
High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2Shikma Mordechai, Libe Gradstein, Annika Pasanen, et al.
Familial Cancer|November 15, 2024
The genetic landscape of Lynch syndrome in the Israeli populationAasem Abu Shtaya, Sofia Naftaly Nathan, Inbal Kedar, et al.
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