Varaico: Literature-Extracted Genetic Variants

Gene:SPRY1
Variant:p.L27*
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SPRY1

NM_001258038.2:p.L27*

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

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.

Tooze RS et al.

Genes, 2023

36980886 (PubMed )
Supplement: genes-14-00615-s001.zip › Supplementary_Information.pdf
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