Varaico: Literature-Extracted Genetic Variants

Gene:PCNX2
Variant:p.T1969M
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PCNX2

NM_014801.4:p.T1969M

Associated Papers

An explainable model of host genetic interactions linked to COVID-19 severity.

Onoja A et al.

Communications Biology, 2022

36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S12

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Machnicki MM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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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."