Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.G79_R82delFs
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NBAS

NM_015909.4:p.G79_R82delFs

Associated Papers

Newborn screening for Pompe disease in Italy: Long-term results and future challenges.

Gragnaniello V et al.

Molecular Genetics and Metabolism Reports, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."