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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HADH

Variant:p.Q44_V45Splc

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HADH

NM_005327.7:p.Q44_V45Splc

hg38:chr4:108009758 G>A

Associated Papers

Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family.

Babiker O et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015

25915078 (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."