Varaico: Literature-Extracted Genetic Variants

Gene:PXDNL
Variant:p.T817A
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PXDNL

NM_144651.5:p.T817A

Associated Papers

Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Tan M et al.

Frontiers in Genetics, 2022

35910219 (PubMed )
Supplement: DataSheet1.xlsx › Table_S7

Phenotypic screening of mutations in Pmr1, the yeast secretory pathway Ca2+/Mn2+-ATPase, reveals residues critical for ion selectivity and transport.

Wei Y et al.

The Journal of Biological Chemistry, 2000

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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."