Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.N540D
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FGFR3

NM_000142.5:p.N540D

Associated Papers

Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.

Huang Y et al.

Scientific Reports, 2025

40596606 (PubMed )
Supplement: 41598_2025_7570_MOESM2_ESM.xlsx › sheet1

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2C.Vars_in_CPGs_MMgenes_MMRF

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.

Antunes LN et al.

Frontiers in Genetics, 2024

Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.

Bonfiglio F et al.

Ebiomedicine, 2023

36493725 (PubMed )
Supplement: mmc1.xlsx › Table_S8

Identifying therapeutic drug targets using bidirectional effect genes.

Estrada K et al.

Nature Communications, 2021

33850126 (PubMed )
Supplement: 41467_2021_21843_MOESM7_ESM.xlsx › Supplementary_Data_6
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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."