Varaico: Literature-Extracted Genetic Variants

Gene:TECPR2
Variant:p.V817M
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TECPR2

NM_014844.5:p.V817M

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

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.

Dard R et al.

European Journal of Medical Genetics, 2017

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