Vinod Varghese
2PUBLICATIONS
87CO-AUTHORS
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Publications (2)
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|Aug 16, 2024
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.Francesca Magrinelli, Christelle Tesson, Plamena R Angelova
|Apr 26, 2020
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.Huw B Thomas, Katherine A Wood, Weronika A Buczek
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