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
Unraveling haplotype errors in the DFNA33 locus.
Vona B et al.
Frontiers in Genetics, 2023
37671045 (PubMed )
Supplement: Table2.XLSX › Tabelle1
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
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Speckmann C et al.
Frontiers in Immunology, 2017
Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines.
Liu Z et al.
Gut Microbes, 0
33412999 (PubMed )
Supplement: KGMI_A_1854967_SM8160.zip › Supplementary__files › Supplementary_Tables.xlsx › Table_S1
Select a paper to view details