Varaico: Literature-Extracted Genetic Variants

Gene:TPSD1
Variant:p.I144V
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TPSD1

NM_012217.3:p.I144V

Associated Papers

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Ozgencil M et al.

Plos One, 2021

34855882 (PubMed )
Supplement: pone.0260852.s015.xlsx › iC61G_2

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM2_ESM.xlsx › S2

Evolutionary history of human colitis-associated colorectal cancer.

Baker AM et al.

Gut, 2019

29991641 (PubMed )
Supplement: gutjnl-2018-316191supp005.xlsx › UC05

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Kim YC et al.

Plos One, 2017

28076423 (PubMed )
Supplement: pone.0167581.s003.xlsx › Egyptian-specific

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT et al.

Human Molecular Genetics, 2015

25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AO-A03R-01A.domain
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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."