Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.Y546C
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HADHA

NM_000182.5:p.Y546C

Associated Papers

Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.

Kaseniit KE et al.

Clinical Genetics, 2019

31170325 (PubMed )
Supplement: CGE-96-236-s003.pdf
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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."