Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.C545fs
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FGFR3

NM_000142.5:p.C545fs

Associated Papers

NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.

Naamneh Elzenaty R et al.

International Journal of Molecular Sciences, 2024

39337600 (PubMed )
Supplement: ijms-25-10109-s001.zip › ijms-3175587-supplementary.pdf

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.

Martinez de Lapiscina I et al.

Plos One, 2023

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