Varaico: Literature-Extracted Genetic Variants

Gene:ECE1
Variant:p.T341I
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ECE1

NM_001397.3:p.T341I

Associated Papers

Association of immune relevant single nucleotide polymorphisms with ALK-positive anaplastic large cell lymphoma presentation and outcome: results of the immuno ALCL study.

Adriana P et al.

Journal of Translational Medicine, 2025

Race, common genetic variation, and therapeutic response disparities in heart failure.

Taylor MR et al.

Jacc. Heart Failure, 2014

PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.

Liebrechts-Akkerman G et al.

International Journal of Legal Medicine, 2014

Pharmacogenetic effect of an endothelin-1 haplotype on response to bucindolol therapy in chronic heart failure.

Taylor MR et al.

Pharmacogenetics and Genomics, 2009

Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.

Weese-Mayer DE et al.

Pediatric Research, 2004

Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.

Weese-Mayer DE et al.

American Journal of Medical Genetics. Part A, 2003

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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."