Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.H179fs
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APOA1

NM_000039.3:p.H179fs

Associated Papers

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2

New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis.

Colombat M et al.

Kidney International, 2020

Novel clinical manifestations and treatment of hereditary apoA-I amyloidosis: when a good protein turns bad.

Gursky O

Kidney International, 2020

Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development.

Zanoni P et al.

Current Opinion in Lipidology, 2020

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
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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."