Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.T337A
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LIPA

NM_000235.4:p.T337A

Associated Papers

Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.

Deng Z et al.

Nature Communications, 2023

37402769 (PubMed )
Supplement: 41467_2023_39761_MOESM5_ESM.xlsx › original

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.

Del Angel G et al.

Human Mutation, 2019

31180157 (PubMed )
Supplement: HUMU-40-2007-s001.xlsx › Supplementary_Table_1

Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.

Qiu YL et al.

Hepatology (baltimore, Md.), 2017

28027573 (PubMed )
Supplement: HEP-65-1655-s001.pdf
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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."