Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.S346P
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FGFR1

NM_023110.3:p.S346P

Associated Papers

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

Schell U et al.

Human Molecular Genetics, 1995

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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."