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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LPIN1

Variant:p.G9delFs

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LPIN1

NM_001349206.2:p.G9delFs

hg38:chr2:11765567 GC>G

Associated Papers

Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.

Hamel Y et al.

Cell Reports. Medicine, 2021

34467247 (PubMed )

Supplement: mmc1.pdf

Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations.

Pelosi M et al.

Journal of Lipid Research, 2017

28986436 (PubMed )

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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."