Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.L46F
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HSPD1

NM_002156.5:p.L46F

Associated Papers

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Jia X et al.

Annals of Neurology, 2018

29908077 (PubMed )
Supplement: ANA-84-51-s004.pdf

Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex.

Bross P et al.

Frontiers in Molecular Biosciences, 2016

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