Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.D3Y
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AIP

NM_003977.4:p.D3Y

Associated Papers

Anti-tumorigenic properties by trichothiodystrophy mutations in melanocytic cells.

Paudel R et al.

Nar Cancer, 2025

40918647 (PubMed )
Supplement: zcaf026_supplemental_files.zip › Supplementary_table_3.xlsx › Sheet1

The process of Lewy body formation, rather than simply α-synuclein fibrillization, is one of the major drivers of neurodegeneration.

Mahul-Mellier AL et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

32075919 (PubMed )
Supplement: pnas.1913904117.sd01.xlsx › Day_14_PFF_vs_PBS

Modulation of Titin-Based Stiffness in Hypertrophic Cardiomyopathy via Protein Kinase D.

Herwig M et al.

Frontiers in Physiology, 2020

32351396 (PubMed )
Supplement: Table_2.XLSX › KO_WT

Losartan ameliorates dystrophic epidermolysis bullosa and uncovers new disease mechanisms.

Nyström A et al.

Embo Molecular Medicine, 2015

26194911 (PubMed )
Supplement: emmm0007-1211-sd2.xlsx › proteinGroups
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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."