Varaico: Literature-Extracted Genetic Variants

Gene:SKOR2
Variant:p.K424_E425delFs
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SKOR2

NM_001278063.4:p.K424_E425delFs

Associated Papers

Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families.

Farazi Fard MA et al.

Journal of Human Genetics, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."