Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.R350C
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CPT2

NM_000098.3:p.R350C

Associated Papers

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Dellefave-Castillo LM et al.

Jama Cardiology, 2022

35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.

Abad C et al.

Biology, 2018

29794985 (PubMed )
Supplement: biology-07-00031-s001.zip › Table_S1-S3_05182018 › Table_S2A_and_S2Br_05152018.xlsx › S2A._Varaints

A Metabolic Basis for Endothelial-to-Mesenchymal Transition.

Xiong J et al.

Molecular Cell, 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."