Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.T320A
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HSPD1

NM_002156.5:p.T320A

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG13

Dilated cardiomyopathy-linked heat shock protein family D member 1 mutations cause up-regulation of reactive oxygen species and autophagy through mitochondrial dysfunction.

Enomoto H et al.

Cardiovascular Research, 2021

Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications.

Spracklen TF et al.

Genes, 2021

Parathyroid hormone initiates dynamic NHERF1 phosphorylation cycling and conformational changes that regulate NPT2A-dependent phosphate transport.

Zhang Q et al.

The Journal of Biological Chemistry, 2019

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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."