Yazar "Toy, Fatih" için listeleme
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Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegi
Kaymakcalan, Hande; Yarman, Yanki; Goc, Nukte; Toy, Fatih; Meral, Cihan; Ercan-Sencicek, A. Gulhan; Gunel, Murat (WILEY, 2018)We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings ...
