Varaico: Literature-Extracted Genetic Variants

Gene:GPC4
Variant:p.R412K
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GPC4

NM_001448.3:p.R412K

Associated Papers

Craniofacial phenotypes associated with Robinow syndrome.

Conlon CJ et al.

American Journal of Medical Genetics. Part A, 2021

Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.

Shayota BJ et al.

American Journal of Medical Genetics. Part A, 2020

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Amor DJ et al.

American Journal of Human Genetics, 2019

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

White JJ et al.

American Journal of Human Genetics, 2018

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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."