Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___
Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy.
Chen Y et al.
Frontiers in Medicine, 2022
36111109 (PubMed )
Supplement: Table_3.XLSX › rare_varaints
Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family.
Chen Q et al.
Frontiers in Neuroscience, 2021
Corrigendum: Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family.
Chen Q et al.
Frontiers in Neuroscience, 2021
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