Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.M385_V386Splc
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PROS1

NM_000313.4:p.M385_V386Splc

Associated Papers

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

Genotype and laboratory and clinical phenotypes of protein s deficiency.

Duebgen S et al.

American Journal of Clinical Pathology, 2012

Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.

Biguzzi E et al.

Human Mutation, 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."