Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.R54H
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FGFR1

NM_023110.3:p.R54H

Associated Papers

Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.

Kałużna M et al.

Genes, 2021

34198905 (PubMed )
Supplement: genes-12-00868-s001.zip › genes-1238540-supplementary.xlsx › New_variants

Screening of mutations affecting protein stability and dynamics of FGFR1-A simulation analysis.

Doss CG et al.

Applied & Translational Genomics, 2012

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.

Martin C et al.

Endocrine Reviews, 2011

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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."