Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.Y434C
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ALDH7A1

NM_001182.5:p.Y434C

Associated Papers

Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.

Yu X et al.

Frontiers in Neurology, 2025

40979201 (PubMed )
Supplement: Table_1.xlsx › HGMD______

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

SoRelle JA et al.

Jama Network Open, 2020

32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Truty R et al.

Epilepsia Open, 2019

31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Codina-Solà M et al.

Molecular Autism, 2015

25969726 (PubMed )
Supplement: 13229_2015_17_MOESM2_ESM.xlsx › Table_S2
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."