Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.V700E
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FGFR3

NM_000142.5:p.V700E

Associated Papers

Review: Balancing Selection for Deleterious Alleles in Livestock.

Derks MFL et al.

Frontiers in Genetics, 2021

Achondroplasia: Development, pathogenesis, and therapy.

Ornitz DM et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2017

Fibroblast growth factor signaling in skeletal development and disease.

Ornitz DM et al.

Genes & Development, 2015

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.

Makrythanasis P et al.

Human Mutation, 2014

A 660-Kb deletion with antagonistic effects on fertility and milk production segregates at high frequency in Nordic Red cattle: additional evidence for the common occurrence of balancing selection in livestock.

Kadri NK et al.

Plos Genetics, 2014

A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.

Ibeagha-Awemu EM et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

Toydemir RM et al.

American Journal of Human Genetics, 2006

A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep.

Beever JE et al.

Animal Genetics, 2006

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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."