Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.E91delFs
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NHLRC1

NM_198586.3:p.E91delFs

Associated Papers

Seven cases of Pompe disease from Greece.

Kroos M et al.

Journal of Inherited Metabolic Disease, 2006

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.

Vorgerd M et al.

Neurogenetics, 1998

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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."