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(2019) Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. American journal of human genetics. pp. 1048-1056. ISSN 1537-6605
(2018) Biallelic mutations in early-onset, variably progressive neurodegeneration. Neurology. e319-e330. ISSN 1526-632X