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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCO2

Variant:p.Q182*

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SCO2

NM_005138.3:p.Q182*

hg38:chr22:50523868 G>A

Associated Papers

Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.

Chen PS et al.

Journal of Neuromuscular Diseases, 2023

37066920 (PubMed )

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