Varaico: Literature-Extracted Genetic Variants

Gene:PTF1A
Variant:p.S263P
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PTF1A

NM_178161.3:p.S263P

Associated Papers

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis

Whole exome sequencing reveals novel candidate gene variants for MODY.

Yalçın Çapan Ö et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

32645390 (PubMed )
Supplement: 1-s2.0-S0009898120303211-mmc1.xlsx › Sayfa1

Functional and association analysis of an Amerindian-derived population-specific p.(Thr280Met) variant in RBPJL, a component of the PTF1 complex.

Nair AK et al.

European Journal of Human Genetics : Ejhg, 2018

29302047 (PubMed )
Supplement: 41431_2017_62_MOESM1_ESM.pdf

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-00010-Table_S13.xlsx › Sheet1
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