Varaico: Literature-Extracted Genetic Variants

Gene:ELP1
Variant:p.I830M
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ELP1

NM_003640.5:p.I830M

Associated Papers

Mutational Profiles Reveal an Aberrant TGF-β-CEA Regulated Pathway in Colon Adenomas.

Chen J et al.

Plos One, 2016

27100181 (PubMed )
Supplement: pone.0153933.s001.xlsx › WTS-adenoma_samples-First_Batch

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A7-A0CG-01A.domain

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.

Suh BC et al.

Molecular Medicine Reports, 2014

Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

Park J et al.

Journal of Clinical Neurology (seoul, Korea), 2013

The role of the IKAP gene polymorphisms in atopic diseases in the middle European population.

Schüller M et al.

Journal of Human Genetics, 2003

Amino-acid substitutions in the IKAP gene product significantly increase risk for bronchial asthma in children.

Takeoka S et al.

Journal of Human Genetics, 2001

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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."