Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.E343Q
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FKRP

NM_024301.5:p.E343Q

Associated Papers

Discovery of naturally occurring ESR1 mutations in breast cancer cell lines modelling endocrine resistance.

Martin LA et al.

Nature Communications, 2017

29192207 (PubMed )
Supplement: 41467_2017_1864_MOESM3_ESM.xlsx › MCF7-LTEDY537C

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.

Yang L et al.

Bmc Medical Genetics, 2017

28724398 (PubMed )
Supplement: 12881_2017_418_MOESM6_ESM.xlsx › Final_1.xls

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_3_early_met_1

Whole-exome Sequence Analysis Implicates Rare Il17REL Variants in Familial and Sporadic Inflammatory Bowel Disease.

Sasaki MM et al.

Inflammatory Bowel Diseases, 2016

Multiple region whole-exome sequencing reveals dramatically evolving intratumor genomic heterogeneity in esophageal squamous cell carcinoma.

Cao W et al.

Oncogenesis, 2015

26619400 (PubMed )
Supplement: oncsis201534x4.xls › Table_S3_PtB_nonsilmutation.txt

Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree.

Jin X et al.

Genetics and Molecular Research : Gmr, 2015

Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren's syndrome.

Johar AS et al.

Journal of Translational Medicine, 2015

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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."