Varaico: Literature-Extracted Genetic Variants

Gene:GPC3
Variant:p.S571delFs
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GPC3

NM_004484.4:p.S571delFs

Associated Papers

Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome.

Das Bhowmik A et al.

Gene, 2015

A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome.

Okamoto N et al.

Journal of Human Genetics, 1999

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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."