Varaico: Literature-Extracted Genetic Variants

Gene:PTCD3
Variant:p.P640A
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PTCD3

NM_017952.6:p.P640A

Associated Papers

The phenotypic spectrum of PTCD3 deficiency.

Lace B et al.

Jimd Reports, 2024

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

Muñoz-Pujol G et al.

Brain Pathology (zurich, Switzerland), 2023

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Yépez VA et al.

Genome Medicine, 2022

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › NGP
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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."