Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP1
Variant:p.F177delFs
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CNTNAP1

NM_003632.3:p.F177delFs

Associated Papers

The Attenuated Phenotype of CNTNAP1-Related Neuropathy Mimics Spastic-Dystonic Cerebral Palsy.

Krygier M et al.

American Journal of Medical Genetics. Part A, 2025

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
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