Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.S409*
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P3H1

NM_022356.4:p.S409*

Associated Papers

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Wai HA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32123317 (PubMed )
Supplement: 41436_2020_766_MOESM3_ESM.xlsx › Variant_summary
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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."