Varaico: Literature-Extracted Genetic Variants

Gene:PCNX2
Variant:p.A1989T
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PCNX2

NM_014801.4:p.A1989T

Associated Papers

Familial nonmedullary thyroid cancer: a case series in Iranian patients with a meta-review of case series.

Mohammadi Zaniani Z et al.

Laboratory Medicine, 2024

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Wagner M et al.

Nature Communications, 2019

31636353 (PubMed )
Supplement: 41467_2019_12620_MOESM2_ESM.xlsx › Tabelle1

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."