Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A2
Variant:p.R228H
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ALDH3A2

NM_000382.3:p.R228H

Associated Papers

Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.

Yoshioka H et al.

International Journal of Molecular Sciences, 2021

33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-5_Final_021921.xlsx › Table_S3.5

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

Clinical and molecular characterization and response to acitretin in three families with Sjögren-Larsson syndrome.

Vural S et al.

International Journal of Dermatology, 2018

Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.

Cho KH et al.

Clinical Genetics, 2018

A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.

Keller MA et al.

Nature Communications, 2014

25047030 (PubMed )
Supplement: ncomms5439-s1.pdf

Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.

Yiş U et al.

The Turkish Journal of Pediatrics, 0

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