Varaico: Literature-Extracted Genetic Variants

Gene:ALDH18A1
Variant:p.H579Q
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ALDH18A1

NM_002860.4:p.H579Q

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG9

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.

Zieger HK et al.

Hgg Advances, 2023

36589413 (PubMed )
Supplement: mmc2.xlsx › Table_S15
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