Varaico: Literature-Extracted Genetic Variants

Gene:PLAT
Variant:p.Y471H
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PLAT

NM_000930.5:p.Y471H

Associated Papers

[Advances in the genetics of venous thromboembolic disease].

Xia YQ et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2024

Tissue-type plasminogen activator (tPA) homozygous Tyr471His mutation associates with thromboembolic disease.

Tao Y et al.

Medcomm, 2023

Diagnosis and treatment of acquired factor VIII deficiency: a case report and literature review.

Ren Y et al.

The Journal of International Medical Research, 2022

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
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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."