Varaico: Literature-Extracted Genetic Variants

Gene:GRK2
Variant:p.L157F
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GRK2

NM_001619.5:p.L157F

Associated Papers

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.

Şimşek-Kiper PÖ et al.

American Journal of Medical Genetics. Part A, 2024

Cilia kinases in skeletal development and homeostasis.

Abraham SP et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.

Bosakova M et al.

Embo Molecular Medicine, 2020

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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."