Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.R110W
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FGFR3

NM_000142.5:p.R110W

Associated Papers

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.

Calpena E et al.

Journal of Medical Genetics, 2022

33436522 (PubMed )
Supplement: jmedgenet-2020-107459supp001.pdf

Identifying therapeutic drug targets using bidirectional effect genes.

Estrada K et al.

Nature Communications, 2021

33850126 (PubMed )
Supplement: 41467_2021_21843_MOESM7_ESM.xlsx › Supplementary_Data_6

Foramen magnum compression in Coffin-Lowry syndrome: A case report.

Upadia J et al.

American Journal of Medical Genetics. Part A, 2017

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