Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.D309N
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CCDC40

NM_017950.4:p.D309N

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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