Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.L205R
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TAFAZZIN

NM_000116.5:p.L205R

Associated Papers

Classification of Cushing's syndrome PKAc mutants based upon their ability to bind PKI.

Omar MH et al.

The Biochemical Journal, 2023

Mislocalization of protein kinase A drives pathology in Cushing's syndrome.

Omar MH et al.

Cell Reports, 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."