Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4
Variant:p.E676*
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ERCC4

NM_005236.3:p.E676*

Associated Papers

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

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected.

Skorvanek M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

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