Varaico: Literature-Extracted Genetic Variants

Gene:FBXO7
Variant:p.D382Splc
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FBXO7

NM_012179.4:p.D382Splc

Associated Papers

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Thiffault I et al.

Cold Spring Harbor Molecular Case Studies, 2020

32358097 (PubMed )
Supplement: supp_mcs.a003970_Supplemental_Table.xlsx › Variants_in_OMIM

New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.

Bartoníková T et al.

Medicine, 2018

Systematic mutational analysis of FBXO7 in a Parkinson's disease population from southern Spain.

Gómez-Garre P et al.

Neurobiology of Aging, 2014

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