Varaico: Literature-Extracted Genetic Variants

Gene:GPC1
Variant:p.E403V
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GPC1

NM_002081.3:p.E403V

Associated Papers

Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.

Mariani S et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2003

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.

Veugelers M et al.

Human Molecular Genetics, 2000

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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."