Varaico: Literature-Extracted Genetic Variants

Gene:SPRY1
Variant:p.E79*
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SPRY1

NM_001258038.2:p.E79*

Associated Papers

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.

Tooze RS et al.

Journal of Medical Genetics, 2023

Pathogenetics of the RASopathies.

Tidyman WE et al.

Human Molecular Genetics, 2016

Expansion of the RASopathies.

Tidyman WE et al.

Current Genetic Medicine Reports, 2016

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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."