Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.V236A
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ECHS1

NM_004092.4:p.V236A

Associated Papers

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.

Kim MJ et al.

Annals of Laboratory Medicine, 2023

36544340 (PubMed )
Supplement: alm-43-3-280-supple.xlsx › Table_S2

Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.

Lee JS et al.

Clinical Genetics, 2020

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