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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OTOG

Variant:p.W2151*

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OTOG

NM_001292063.2:p.W2151*

hg38:chr11:17613625 G>A

Associated Papers

Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A.

Kaur N et al.

Neurogenetics, 2024

38280046 (PubMed )

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