Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN2
Variant:p.A324D
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EMILIN2

NM_032048.3:p.A324D

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_2

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.

van der Welle REN et al.

Embo Molecular Medicine, 2021

33851776 (PubMed )
Supplement: EMMM-13-e13258-s002.zip › Dataset_EV1.xlsx › Sheet1
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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."