Varaico: Literature-Extracted Genetic Variants

Gene:FGF9
Variant:p.R190T
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FGF9

NM_002010.3:p.R190T

Associated Papers

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

Schmetz A et al.

Genes, 2023

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.

Croft B et al.

Clinical 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

Novel FGF9 variant contributes to multiple synostoses syndrome 3.

Dobson SM et al.

American Journal of Medical Genetics. Part A, 2022

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