Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A2
Variant:p.E433fs
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ALDH3A2

NM_000382.3:p.E433fs

Associated Papers

Sjogren-Larsson Syndrome: Mechanisms and Management.

Bindu PS

The Application of Clinical Genetics, 2020

Genotype and phenotype variability in Sjögren-Larsson syndrome.

Weustenfeld M et al.

Human Mutation, 2019

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Koumbaris G et al.

Molecular Cytogenetics, 2019

31832098 (PubMed )
Supplement: 13039_2019_459_MOESM4_ESM.xlsx › Sheet1
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