Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.Q120*
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PROS1

NM_000313.4:p.Q120*

Associated Papers

DnaJC7 in Amyotrophic Lateral Sclerosis.

Dilliott AA et al.

International Journal of Molecular Sciences, 2022

Aminoglycosides are efficient reagents to induce readthrough of premature termination codon in mutant B4GALNT1 genes found in families of hereditary spastic paraplegia.

Yesmin F et al.

Journal of Biochemistry, 2020

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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."