Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.G21R
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PSAP

NM_002778.4:p.G21R

Associated Papers

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

A Functional Study Identifying Critical Residues Involving Metal Transport Activity and Selectivity in Natural Resistance-Associated Macrophage Protein 3 in Arabidopsis thaliana.

Li J et al.

International Journal of Molecular Sciences, 2018

Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

Izumi K et al.

American Journal of Medical Genetics. Part A, 2013

Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency.

Karimi M et al.

Haematologica, 2008

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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."