Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions is a research paper published in Journal of Inherited Metabolic Disease (2020). On theSindex it has a DataRank of 0. It has been cited 38 times.
Scored on demand from live citation data
Linked data & code
DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?
FAIR checklist signals are shown for context only and do not affect DataRank scoring.
We only score data papers we can read in full — never from an abstract alone.
National Institutes of Health
Grant: U01HG010218
National Institutes of Health
Grant: U01HG007708
National Institutes of Health
Grant: U54 NS115198
National Institutes of Health
Grant: R01DK099551
Medical Research Council
Grant: MR/S007180/1
NHGRI NIH HHS
Grant: U24 HG008956
NHGRI NIH HHS
Grant: UM1 HG006493
JPB Foundation
Region Skåne
National Human Genome Research Institute
Simons Foundation Autism Research Initiative
MeSH Terms
Keywords