Varaico: Literature-Extracted Genetic Variants

Gene:CTNNAL1
Variant:p.E527Q
Back to variants list

CTNNAL1

NM_003798.4:p.E527Q

Associated Papers

Characterizing rare and low-frequency height-associated variants in the Japanese population.

Akiyama M et al.

Nature Communications, 2019

31562340 (PubMed )
Supplement: 41467_2019_12276_MOESM9_ESM.xlsx › Supplementary_Data_7

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-A8-A06O-01A.domain

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s006.pdf

Alpha-catulin maps to the familial dysautonomia region on 9q31.

Demacio PC et al.

Genome, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."