Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2‐Related Disorders

Makaleler > Vaka Takdimi · 2025

Yazarlar: Muhsin Özgür ÇOĞULU, DURDUGÜL AYYILDIZ EMECEN, Tahir ATİK, Esra IŞIK, Asude DURMAZ, Ayça AYKUT, Feriştah Ferda ÖZKINAY

BIRTH DEFECTS RESEARCH, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2025, cilt 117, ss 1-1