Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.G21fs
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SOX2

NM_003106.4:p.G21fs

Associated Papers

SOXopathies and dystonia: Consolidation of a recurrent association.

Indelicato E et al.

Parkinsonism & Related Disorders, 2024

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.

Blackburn PR et al.

American Journal of Medical Genetics. Part A, 2018

Diagnostic value of partial exome sequencing in developmental disorders.

Gieldon L et al.

Plos One, 2018

30091983 (PubMed )
Supplement: pone.0201041.s001.xlsx › Tabelle1
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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."