Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.A52V
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HSPD1

NM_002156.5:p.A52V

Associated Papers

The N-terminal transmembrane domain of lambda S is required for holin but not antiholin function.

White R et al.

Journal of Bacteriology, 2010

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.

Maier EM et al.

Human Molecular Genetics, 2009

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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."