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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EEF2K

Variant:p.V185M

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EEF2K

NM_013302.5:p.V185M

hg38:chr16:22251257 G>A

Associated Papers

Human inherited CCR2 deficiency underlies progressive polycystic lung disease.

Neehus AL et al.

Cell, 2024

38157855 (PubMed )

Supplement: NIHMS1949155-supplement-MMC1.pdf

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