Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.S372Y
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FGFR2

NM_000141.5:p.S372Y

Associated Papers

Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.

Zingg D et al.

Nature, 2022

35948633 (PubMed )
Supplement: 41586_2022_5066_MOESM16_ESM.xlsx › ED_Fig._2a

Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare-Stevenson Syndrome.

Ferreira LC et al.

Frontiers in Genetics, 2020

Genetic Causes of Craniosynostosis: An Update.

Goos JAC et al.

Molecular Syndromology, 2019

Clinical genetics of craniosynostosis.

Wilkie AOM et al.

Current Opinion in Pediatrics, 2017

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.

Wenger TL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.

Wenger TL et al.

American Journal of Medical Genetics. Part A, 2015

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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."