Varaico: Literature-Extracted Genetic Variants

Gene:UNC93B1
Variant:p.P209L
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UNC93B1

NM_030930.4:p.P209L

Associated Papers

Human inherited CCR2 deficiency underlies progressive polycystic lung disease.

Neehus AL et al.

Cell, 2024

38157855 (PubMed )
Supplement: NIHMS1949155-supplement-MMC1.pdf

Analysis of rare genetic variants in All of Us cohort patients with common variable immunodeficiency.

von Beck T et al.

Frontiers in Genetics, 2024

Did variants in inborn errors of immunity genes contribute to the extinction of Neanderthals?

Zhou Z et al.

Asian Pacific Journal of Allergy and Immunology, 2022

Genetic variability in COVID-19-related genes in the Brazilian population.

Secolin R et al.

Human Genome Variation, 2021

33824725 (PubMed )
Supplement: 41439_2021_146_MOESM3_ESM.xlsx › In_silico_prediction_results

Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration.

Lorés-Motta L et al.

Jama Ophthalmology, 2018

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
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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."