Varaico: Literature-Extracted Genetic Variants

Gene:SRGN
Variant:p.N48I
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SRGN

NM_002727.4:p.N48I

Associated Papers

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.

Elliott S et al.

Molecular Genetics and Metabolism, 2016

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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."