Associated Papers
Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature.
Dong X et al.
American Journal of Medical Genetics. Part A, 2022
35801299 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
KIF1Bβ mutations detected in hereditary neuropathy impair IGF1R transport and axon growth.
Xu F et al.
The Journal of Cell Biology, 2018
Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.
Ho CC et al.
International Journal of Molecular Sciences, 2017
28379183 (PubMed )
Supplement: ijms-18-00770-s001.zip › ijms-183383-suppl › Supplementary_material_II.pdf
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A07G-01A.domain
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