Varaico: Literature-Extracted Genetic Variants

Gene:PRIM1
Variant:p.D5A
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PRIM1

NM_000946.3:p.D5A

Associated Papers

Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer.

Wen W et al.

Genetics in Medicine Open, 2025

39981113 (PubMed )
Supplement: mmc4.xlsx › Sheet1

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Analysis across Taiwan Biobank, Biobank Japan, and UK Biobank identifies hundreds of novel loci for 36 quantitative traits.

Chen CY et al.

Cell Genomics, 2023

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.

Choi J et al.

Science Advances, 2023

37556544 (PubMed )
Supplement: sciadv.adg6319_tables_s5_s6_s9_and_s11.zip › Table_S11.xlsx › Table_S11

Characterizing rare and low-frequency height-associated variants in the Japanese population.

Akiyama M et al.

Nature Communications, 2019

31562340 (PubMed )
Supplement: 41467_2019_12276_MOESM9_ESM.xlsx › Supplementary_Data_7

An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Zhao J et al.

Genome Medicine, 2018

29378629 (PubMed )
Supplement: 13073_2018_513_MOESM2_ESM.xlsx › Sheet1

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

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-A2-A0CT-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."