Varaico: Literature-Extracted Genetic Variants

Gene:GPC3
Variant:p.C65_G69delFs
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GPC3

NM_004484.4:p.C65_G69delFs

Associated Papers

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

Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome.

Chong K et al.

Prenatal Diagnosis, 2018

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

Magini P et al.

American Journal of Medical Genetics. Part A, 2016

Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome.

Chen CP

Taiwanese Journal of Obstetrics & Gynecology, 2012

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.

Weichert J et al.

European Journal of Medical Genetics, 0

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

Ratbi I et al.

The Turkish Journal of Pediatrics, 0

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