Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A1
Variant:p.D182N
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ALDH3A1

NM_000691.5:p.D182N

Associated Papers

Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.

Virgilio E et al.

The Journal of Clinical Investigation, 2025

40924476 (PubMed )
Supplement: jci-135-195756-s253.xlsx › ST1_Hom_coding_variants_WGS
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