Varaico: Literature-Extracted Genetic Variants

Gene:HSPD1
Variant:p.V78A
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HSPD1

NM_002156.5:p.V78A

Associated Papers

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM11_ESM.xlsx › Supplementary_Data_8

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

Andresen BS et al.

American Journal of Human Genetics, 2001

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