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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SON

Variant:p.R357fs

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SON

NM_138927.4:p.R357fs

hg38:chr21:33550300 AGA>N

Associated Papers

A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.

Pasca L et al.

Neuropediatrics, 2024

37343586 (PubMed )

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