Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.L342L
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FGFR1

NM_023110.3:p.L342L

Associated Papers

Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis.

Saliba S et al.

Prenatal Diagnosis, 2018

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.

Júnior HM et al.

Medicina Oral, Patologia Oral Y Cirugia Bucal, 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."