Varaico: Literature-Extracted Genetic Variants

Gene:SPRY1
Variant:p.Q6fs
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SPRY1

NM_001258038.2:p.Q6fs

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

The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.

Bille A et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2023

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.

Timberlake AT et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.

Timberlake AT et al.

Elife, 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."