Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.G222R
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PROS1

NM_000313.4:p.G222R

Associated Papers

A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1.

Zhang YP et al.

Thrombosis Journal, 2021

A novel mutation Gly222Arg in PROS1 causing protein S deficiency in a patient with pulmonary embolism.

Xu J et al.

Journal of Clinical Laboratory Analysis, 2020

[Recurrent deep vein thrombosis caused by heterozygous missense mutation of the protein S gene: genetic analysis of a case].

Ye X et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2011

Calpainopathy-a survey of mutations and polymorphisms.

Richard I et al.

American Journal of Human Genetics, 1999

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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."