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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MECOM

Variant:p.R938Q

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MECOM

NM_004991.4:p.R938Q

hg38:chr3:169100921 C>T

Associated Papers

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Venugopal P et al.

Blood Advances, 2024

38662475 (PubMed )

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