Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.L297fs
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PEX12

NM_000286.3:p.L297fs

Associated Papers

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12

Zellweger syndrome and secondary mitochondrial myopathy.

Salpietro V et al.

European Journal of Pediatrics, 2015

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