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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC22A4

Variant:p.H367L

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SLC22A4

NM_003059.3:p.H367L

hg38:chr5:132334771 A>T

Associated Papers

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.

Horga A et al.

Human Genetics, 2019

31673819 (PubMed )

Supplement: 439_2019_2075_MOESM1_ESM.docx

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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."