Varaico: Literature-Extracted Genetic Variants

Gene:MPC1
Variant:p.R97Q
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MPC1

NM_016098.4:p.R97Q

Associated Papers

Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.

Toriyama K et al.

The Journal of Pathology, 2025

40317966 (PubMed )
Supplement: PATH-266-337-s002.zip › path6432-sup-0004-TableS4.xlsx › PDAC-057-ad

[Mitochondrial pyruvate carrier deficiency: 3 cases report and literature review].

Jiang HF et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2023

Generation of an induced pluripotent stem cell line (BCHNCi003-A) from a patient with mitochondrial pyruvate carrier deficiency caused by biallelic MPC1 mutations.

Jiang H et al.

Stem Cell Research, 2023

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.

Jiang H et al.

Journal of Inherited Metabolic Disease, 2022

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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."