Varaico: Literature-Extracted Genetic Variants

Gene:DNAJA3
Variant:p.H121Q
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DNAJA3

NM_005147.6:p.H121Q

Associated Papers

A peptide derived from TID1S rescues frataxin deficiency and mitochondrial defects in FRDA cellular models.

Dong YN et al.

Frontiers in Pharmacology, 2024

A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy.

Patra M et al.

European Journal of Human Genetics : Ejhg, 2019

Identification of a hTid-1 mutation which sensitizes gliomas to apoptosis.

Trentin GA et al.

Febs Letters, 2004

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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."