Varaico: Literature-Extracted Genetic Variants

Gene:PABPC1
Variant:p.K333delFs
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PABPC1

NM_002568.4:p.K333delFs

Associated Papers

Steroid hormone receptors, exome sequencing and treatment responsiveness of breast cancer patient-derived xenografts originated in a South American country.

Pataccini G et al.

Scientific Reports, 2025

39827242 (PubMed )
Supplement: 41598_2025_86389_MOESM2_ESM.xlsx › Sheet1

Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.

Pomares AA et al.

Plos One, 2025

40067847 (PubMed )
Supplement: pone.0318689.s001.zip › supplementary_material › TABLE_S3._Mutations_in_DLBCL__86_cases_.xlsx › Hoja1

Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.

Lin H et al.

Heliyon, 2024

38826758 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.

Wakil SM et al.

Bmc Medical Genetics, 2019

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.

Rashid M et al.

Nature Communications, 2019

31101826 (PubMed )
Supplement: 41467_2019_9979_MOESM5_ESM.xlsx › Supp_table_2b

RARS2 mutations in a sibship with infantile spasms.

Ngoh A et al.

Epilepsia, 2016

27061686 (PubMed )
Supplement: EPI-57-e97-s002.pdf
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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."