Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.G6_R7insFs
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SPR

NM_003124.5:p.G6_R7insFs

Associated Papers

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Delanne J et al.

Molecular Genetics and Metabolism Reports, 2021

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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."