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Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Micro syndromeTayfun Çinleti, Özlem Giray Bozkaya, Uluç Yiş et al.|Neurology Asia|2023Cited by 0
Genotypic and Phenotypic Landscape of <scp>KBG</scp> Syndrome: A Study of 23 Turkish IndividualsEnise Avcı Durmuşalioğlu, Tahir Atık, Pelin Özlem Şimşek‐Kiper et al.|American Journal of Medical Genetics Part A|2025Cited by 0