Associated Papers
Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
Walker S et al.
American Journal of Medical Genetics. Part A, 2021
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Costain G et al.
Jama Network Open, 2020
32960281 (PubMed )
Supplement: jamanetwopen-e2018109-s001.pdf
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