Associated Papers
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMMC6.xlsx › SupplementalTableS5
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Almeida LS et al.
European Journal of Human Genetics : Ejhg, 2022
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.
Sheth J et al.
Bmc Neurology, 2018
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
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