Varaico: Literature-Extracted Genetic Variants

Gene:IFT172
Variant:p.E1054K
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IFT172

NM_015662.3:p.E1054K

Associated Papers

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Erson-Omay EZ et al.

Genome Medicine, 2017

28153049 (PubMed )
Supplement: 13073_2017_401_MOESM3_ESM.xlsx › AllMutations_Clonality

Exomic sequencing of four rare central nervous system tumor types.

Bettegowda C et al.

Oncotarget, 2013

23592488 (PubMed )
Supplement: oncotarget-04-572-s001.xlsx › supp_table_1b
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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."