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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HADH

Variant:p.K87_A88Splc

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HADH

NM_005327.7:p.K87_A88Splc

hg38:chr4:108009888 G>A

Associated Papers

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

Martins E et al.

Journal of Inherited Metabolic Disease, 2011

21347589 (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."