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European Journal of Medical Genetics|March 3, 2022
TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafnessAnita Maasz, Kinga Hadzsiev, Reka Ripszam, et al.
Frontiers in Genetics|June 25, 2021
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical <i>NF1</i> MicrodeletionsGergely Büki, Anna Zsigmond, Márta Czakó, et al.
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