Varaico: Literature-Extracted Genetic Variants

Gene:LRPPRC
Variant:p.R989C
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LRPPRC

NM_133259.4:p.R989C

Associated Papers

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable4

Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention.

Liu H et al.

Journal of Ovarian Research, 2020

Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature.

Abuduxikuer K et al.

World Journal of Gastroenterology, 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."