Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.G348E
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FGFR1

NM_023110.3:p.G348E

Associated Papers

Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.

Zhang J et al.

Frontiers in Endocrinology, 2024

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S12.xls › Sheet1

Combined in vitro and in silico analyses of FGFR1 variants: genotype-phenotype study in idiopathic hypogonadotropic hypogonadism.

Wang D et al.

Clinical Genetics, 2020

Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Li H et al.

Frontiers in Oncology, 2020

Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate.

Xu H et al.

Biomed Research International, 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."