Varaico: Literature-Extracted Genetic Variants

Gene:PPFIA1
Variant:p.V71I
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PPFIA1

NM_003626.5:p.V71I

Associated Papers

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7

Identification of C21orf59 and ATG2A as novel determinants of renal function-related traits in Japanese by exome-wide association studies.

Yamada Y et al.

Oncotarget, 2017

28410202 (PubMed )
Supplement: oncotarget-08-45259-s001.pdf

Identification of six polymorphisms as novel susceptibility loci for ischemic or hemorrhagic stroke by exome-wide association studies.

Yamada Y et al.

International Journal of Molecular Medicine, 2017

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.

Alkhiary YM et al.

Saudi Journal of Biological Sciences, 2016

27579005 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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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."