Varaico: Literature-Extracted Genetic Variants

Gene:PATE1
Variant:p.Q47R
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PATE1

NM_138294.3:p.Q47R

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Analysis of amplification and association polymorphisms in the bovine beta-defensin 129 (BBD129) gene revealed its function in bull fertility.

Solanki S et al.

Scientific Reports, 2022

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

[Association of nt3434A→G Mutation in Mitochondrial DNA ND1 Gene with Diabetes Mellitus].

Wang X et al.

Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2016

[Association of polymorphisms of N372H in BRCA2 gene and 135G/C in RAD51 gene and breast cancers].

Hu R et al.

Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2008

[Association of gene polymorphisms of CYP1B1 with intrahepatic cholestasis of pregnancy].

Wang XL et al.

Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2008

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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."