Varaico: Literature-Extracted Genetic Variants

Gene:NTNG2
Variant:p.S200L
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NTNG2

NM_032536.4:p.S200L

Associated Papers

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

Dias CM et al.

American Journal of Human Genetics, 2019

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