Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.A639T
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FGFR3

NM_000142.5:p.A639T

Associated Papers

Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.

Kim HY et al.

Annals of Pediatric Endocrinology & Metabolism, 2022

A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.

Escobar LF et al.

American Journal of Medical Genetics. Part A, 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."