Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.R148H
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FGFR1

NM_023110.3:p.R148H

Associated Papers

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.

Rojas RA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33442024 (PubMed )
Supplement: NIHMS1658429-supplement-Supplementary___Appendix__online_only_material__etc__.pdf

Transient Disappearance of RAS Mutant Clones in Plasma: A Counterintuitive Clinical Use of EGFR Inhibitors in RAS Mutant Metastatic Colorectal Cancer.

Raimondi C et al.

Cancers, 2019

Mutational profiling of colorectal cancers with microsatellite instability.

Lin EI et al.

Oncotarget, 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."