Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.T295I
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PODXL

NM_001018111.3:p.T295I

Associated Papers

Hereditary protein C deficiency caused by compound heterozygous mutants in two independent Chinese families.

Wu YT et al.

Pathology, 2014

[Molecular mechanisms of Glanzmann thrombasthenia caused by alpha II b L721R and Q860X compound heterozygous mutation].

Shen WZ et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2008

[Severe hereditary coagulation factor V deficiency caused by two novel heterozygous mutations].

Zhou RF et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2005

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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."