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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AASDH

Variant:p.T149_E150delFs

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AASDH

NM_181806.4:p.T149_E150delFs

hg38:chr4:56378366 CTCAG>C

Associated Papers

Disorders affecting vitamin B6 metabolism.

Wilson MP et al.

Journal of Inherited Metabolic Disease, 2019

30671974 (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."