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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOSC6

Variant:p.R206P

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EXOSC6

NM_058219.3:p.R206P

hg38:chr16:70251284 C>G

Associated Papers

Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.

Valentini G et al.

Biomolecules, 2013

24970202 (PubMed )

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