Varaico: Literature-Extracted Genetic Variants

Gene:EIF4A3
Variant:p.G309R
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EIF4A3

NM_014740.4:p.G309R

Associated Papers

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

In 't Groen SLM et al.

Molecular Therapy. Methods & Clinical Development, 2020

32071926 (PubMed )
Supplement: mmc2.pdf
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