Varaico: Literature-Extracted Genetic Variants

Gene:NOP14
Variant:p.R751Q
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NOP14

NM_001291978.2:p.R751Q

Associated Papers

Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.

Bhattarai P et al.

Acta Neuropathologica, 2024

38598053 (PubMed )
Supplement: 401_2024_2721_MOESM5_ESM.xlsx › S_Table_1

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

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
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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."