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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALDH7A1

Variant:p.V114_R115delFs

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ALDH7A1

NM_001182.5:p.V114_R115delFs

hg38:chr5:126583980 TCTTA>T

Associated Papers

Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns.

Lipiński P et al.

Frontiers in Genetics, 2024

39329078 (PubMed )

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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."