RARA c.179-8248G>A

Variant ID: 17-38496320-G-A

NM_000964.3(RARA):c.179-8248G>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Transcriptomics and machine learning predict diagnosis and severity of growth hormone deficiency.

Jci Insight
Murray, Philip G PG; Stevens, Adam A; De Leonibus, Chiara C; Koledova, Ekaterina E; Chatelain, Pierre P; Clayton, Peter E PE
Publication Date: 2018-04-05

Variant appearance in text: rs2715553
PubMed Link: 29618660
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.

Plos Genetics
Brandler, William M WM; Morris, Andrew P AP; Evans, David M DM; Scerri, Thomas S TS; Kemp, John P JP; Timpson, Nicholas J NJ; St Pourcain, Beate B; Smith, George Davey GD; Ring, Susan M SM; Stein, John J; Monaco, Anthony P AP; Talcott, Joel B JB; Fisher, Simon E SE; Webber, Caleb C; Paracchini, Silvia S
Publication Date: 2013

Variant appearance in text: rs2715553
PubMed Link: 24068947
Variant Present in the following documents:
  • Main text
  • pgen.1003751.pdf
View BVdb publication page



Pathway-Targeted Pharmacogenomics of CYP1A2 in Human Liver.

Frontiers In Pharmacology
Klein, Kathrin K; Winter, Stefan S; Turpeinen, Miia M; Schwab, Matthias M; Zanger, Ulrich M UM
Publication Date: 2010

Variant appearance in text: rs2715553
PubMed Link: 21918647
Variant Present in the following documents:
  • Main text
  • fphar-01-00129.pdf
View BVdb publication page



Association of retinoic acid receptor genes with meningomyelocele.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Tran, Phong X PX; Au, Kit Sing KS; Morrison, Alanna C AC; Fletcher, Jack M JM; Ostermaier, Kathryn K KK; Tyerman, Gayle H GH; Northrup, Hope H
Publication Date: 2011-01

Variant appearance in text: rs2715553
PubMed Link: 21254357
Variant Present in the following documents:
  • Main text
View BVdb publication page



The retinoic acid receptor alpha (RARA) gene is not associated with myopia, hypermetropia, and ocular biometric measures.

Molecular Vision
Veerappan, S S; Schäche, M M; Pertile, K K KK; Islam, F M A FM; Chen, C Y CY; Mitchell, P P; Dirani, M M; Baird, P N PN
Publication Date: 2009-07-17

Variant appearance in text: rs2715553
PubMed Link: 19626135
Variant Present in the following documents:
  • Main text
  • mv-v15-1390.pdf
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Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Au, Kit Sing KS; Tran, Phong X PX; Tsai, Chester C CC; O'Byrne, Michelle R MR; Lin, Jone-Ing JI; Morrison, Alanna C AC; Hampson, Amy W AW; Cirino, Paul P; Fletcher, Jack M JM; Ostermaier, Kathryn K KK; Tyerman, Gayle H GH; Doebel, Sabine S; Northrup, Hope H
Publication Date: 2008-10

Variant appearance in text: rs2715553
PubMed Link: 18937358
Variant Present in the following documents:
  • Main text
View BVdb publication page