Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.R127*
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FA2H

NM_024306.5:p.R127*

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG35

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Dong X et al.

Journal of Medical Genetics, 2020

32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
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