Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.L624R
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FGFR1

NM_023110.3:p.L624R

Associated Papers

Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.

Tangermann C et al.

Nature Genetics, 2026

41361008 (PubMed )
Supplement: 41588_2025_2431_MOESM3_ESM.xlsx › S10_Screen_data_table

Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism.

Tanikawa W et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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

Patil VA et al.

Clinical Endocrinology, 2022

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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."