about
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup diseaseBiallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizuresReview of the phenotypic spectrum associated with haploinsufficiency of MYRF
P50
description
researcher
@en
wetenschapper
@nl
name
Nishitha R Pillai
@en
Nishitha R Pillai
@nl
type
label
Nishitha R Pillai
@en
Nishitha R Pillai
@nl
prefLabel
Nishitha R Pillai
@en
Nishitha R Pillai
@nl
P31
P496
0000-0002-2943-2136