Varaico: Literature-Extracted Genetic Variants

Gene:ALDH1A2
Variant:p.R347H
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ALDH1A2

NM_003888.4:p.R347H

Associated Papers

Identifying the Molecular Drivers of Pathogenic Aldehyde Dehydrogenase Missense Mutations in Cancer and Non-Cancer Diseases.

Jessen-Howard D et al.

International Journal of Molecular Sciences, 2023

37373306 (PubMed )
Supplement: ijms-24-10157-s001.zip › aldh_base_cancer_otherdiseases_benign_supps.xlsx › aldh_base_cancer_otherdiseases_

ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.

Leon E et al.

American Journal of Medical Genetics. Part A, 2023

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.

Beecroft SJ et al.

Human Mutation, 2021

Prognostic and therapeutic role of targetable lesions in B-lineage acute lymphoblastic leukemia without recurrent fusion genes.

Messina M et al.

Oncotarget, 2016

26883104 (PubMed )
Supplement: oncotarget-07-13886-s001.pdf

Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily.

Priyadharshini Christy J et al.

Frontiers in Bioscience (landmark Edition), 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."