Associated Papers
A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.
Lin X et al.
Frontiers in Pediatrics, 2024
38832002 (PubMed )
Supplement: Table1.xlsx › filter_variants
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R
UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.
Saini N et al.
Plos Genetics, 2021
33444353 (PubMed )
Supplement: pgen.1009302.s014.xlsx › S5_Table
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1
A glioneuronal tumor with CLIP2-MET fusion.
Chowdhury T et al.
Npj Genomic Medicine, 2020
32550005 (PubMed )
Supplement: 41525_2020_131_MOESM2_ESM.xlsx › Mutation__exonic_splicing_
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