Associated Papers
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Pediatric Blood & Cancer, 2024
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Supplement: supplement_1.xlsx › SNVs
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2
Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.
Lu S et al.
Theranostics, 2021
33456573 (PubMed )
Supplement: thnov11p2788s1.pdf
Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.
Patowary A et al.
Translational Psychiatry, 2019
30664616 (PubMed )
Supplement: 41398_2018_343_MOESM3_ESM.xlsx › All_Variants
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