Varaico: Literature-Extracted Genetic Variants

Gene:REG3A
Variant:p.H50P
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REG3A

NM_002580.3:p.H50P

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Counteracting lineage-specific transcription factor network finely tunes lung adeno-to-squamous transdifferentiation through remodeling tumor immune microenvironment.

Tang S et al.

National Science Review, 2023

37051524 (PubMed )
Supplement: nwad028_supplemental_files.zip › Table_S4.xlsx › Mutations_in_LCM_samples

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

Ling C et al.

Bmc Medical Genetics, 2019

30642278 (PubMed )
Supplement: 12881_2018_725_MOESM2_ESM.xlsx › Sheet1

Circulating tumor DNA as a marker of treatment response in BRAF V600E mutated non-melanoma solid tumors.

Ahlborn LB et al.

Oncotarget, 2018

30220966 (PubMed )
Supplement: oncotarget-09-32570-s003.xlsx › Sheet1

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_3_early_met_1

Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing.

Liu YP et al.

Medicina Oral, Patologia Oral Y Cirugia Bucal, 2015

Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines.

Liu Z et al.

Gut Microbes, 0

33412999 (PubMed )
Supplement: KGMI_A_1854967_SM8160.zip › Supplementary__files › Supplementary_Tables.xlsx › Table_S1
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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."