Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.L342V
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FGFR1

NM_023110.3:p.L342V

Associated Papers

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_Table_1.xlsx › Supp_Table_1C_SOX10-gnomAD

Case report: 16-yr life history and genomic evolution of an ER+ HER2- breast cancer.

Xu B et al.

Cold Spring Harbor Molecular Case Studies, 2020

33008833 (PubMed )
Supplement: supp_mcs.a005629_Supplemental_Files_1-5.pdf

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

Passos-Bueno MR et al.

Frontiers of Oral Biology, 2008

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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."