Edward Yang to Homozygote
This is a "connection" page, showing publications Edward Yang has written about Homozygote.
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Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome. Am J Med Genet A. 2026 Jul; 200(7):1725-1739.
Score: 0.057
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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021 06; 23(6):1158-1162.
Score: 0.040
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VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation. Cold Spring Harb Mol Case Stud. 2019 12; 5(6).
Score: 0.037
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Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 11 07; 105(5):1048-1056.
Score: 0.037