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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDHX

Variant:p.P447L

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PDHX

NM_003477.3:p.P447L

hg38:chr11:34995006 C>T

Associated Papers

Molecular and biochemical analysis of the MODY syndromes.

Winter WE

Pediatric Diabetes, 2000

15016234 (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."