Varaico: Literature-Extracted Genetic Variants

Gene:SBF1
Variant:p.G309R
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SBF1

NM_002972.4: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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