Varaico: Literature-Extracted Genetic Variants

Gene:INVS
Variant:p.A650P
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INVS

NM_014425.5:p.A650P

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

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 341.162

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

Tory K et al.

Kidney International, 2009

Evidence of oligogenic inheritance in nephronophthisis.

Hoefele J et al.

Journal of the American Society of Nephrology : Jasn, 2007

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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."