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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MECR

Variant:p.D185delFs

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MECR

NM_016011.5:p.D185delFs

hg38:chr1:29203230 TC>T

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

Recurrent MECR R258W causes adult-onset optic atrophy: A case report.

Jia N et al.

European Journal of Medical Genetics, 2024

38296034 (PubMed )

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