Varaico: Literature-Extracted Genetic Variants

Gene:ALDH1L2
Variant:p.P133H
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ALDH1L2

NM_001034173.4:p.P133H

Associated Papers

Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.

You M et al.

Clinical Genetics, 2024

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
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