Varaico: Literature-Extracted Genetic Variants

Gene:HSPB6
Variant:p.S10F
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HSPB6

NM_144617.3:p.S10F

Associated Papers

C-terminal extension of HSPB6 in a family with myopathy and cataract.

Sarparanta J et al.

Human Molecular Genetics, 2026

Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.

Tedesco B et al.

Frontiers in Molecular Biosciences, 2022

35281256 (PubMed )
Supplement: DataSheet1.docx

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

Spracklen TF et al.

Genes, 2021

Regulation of BECN1-mediated autophagy by HSPB6: Insights from a human HSPB6S10F mutant.

Liu GS et al.

Autophagy, 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."