Varaico: Literature-Extracted Genetic Variants

Gene:GPC3
Variant:p.C65fs
Back to variants list

GPC3

NM_004484.4:p.C65fs

Associated Papers

Simpson-Golabi-Behmel syndrome in a 39-year-old male patient with suspected acromegaly-A case study.

Andrysiak-Mamos E et al.

American Journal of Medical Genetics. Part A, 2019

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Vuillaume ML et al.

Human Mutation, 2018

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Vuillaume ML et al.

Human Mutation, 2018

Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.

Ratbi I et al.

The Turkish Journal of Pediatrics, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."