Associated Papers
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
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