Varaico: Literature-Extracted Genetic Variants

Gene:LPGAT1
Variant:p.K200E
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LPGAT1

NM_014873.3:p.K200E

Associated Papers

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Molecular Landscape of Pelvic Organ Prolapse Provides Insights into Disease Etiology.

Kluivers KB et al.

International Journal of Molecular Sciences, 2023

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL21__PON_in_red_

Identification of 12 novel loci that confer susceptibility to early-onset dyslipidemia.

Yamada Y et al.

International Journal of Molecular Medicine, 2019

Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population.

Yamada Y et al.

Biomedical Reports, 2018

Identification of four genes as novel susceptibility loci for early-onset type 2 diabetes mellitus, metabolic syndrome, or hyperuricemia.

Yamada Y et al.

Biomedical Reports, 2018

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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."