Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.M555R
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HADHA

NM_000182.5:p.M555R

Associated Papers

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.

Josephs KS et al.

Genome Medicine, 2024

39472908 (PubMed )
Supplement: 13073_2024_1390_MOESM1_ESM.xlsx › Table_S10

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Schon KR et al.

Bmj (clinical Research Ed.), 2021

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