Varaico: Literature-Extracted Genetic Variants

Gene:PRSS48
Variant:p.S44fs
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PRSS48

NM_183375.5:p.S44fs

Associated Papers

The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.

Sanjuan-Ruiz I et al.

Molecular Neurodegeneration Advances, 2025

41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1

The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.

Herencia-Ropero A et al.

Genome Medicine, 2024

39187844 (PubMed )
Supplement: 13073_2024_1370_MOESM3_ESM.xlsx › SNV

The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers.

Aguilar-Mahecha A et al.

Genes, 2023

38254917 (PubMed )
Supplement: genes-15-00027-s001.zip › Aguilar-Mahecha_et_al_SupplTables_Finalv2.xlsx › Supp_Table_S10

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

Integrative genomic and functional analysis of human oral squamous cell carcinoma cell lines reveals synergistic effects of FAT1 and CASP8 inactivation.

Hayes TF et al.

Cancer Letters, 2016

27693639 (PubMed )
Supplement: mmc3.xls › indels

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00017-Table_S23.xlsx › Pindel
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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."