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
Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.
Wang Y et al.
The British Journal of Ophthalmology, 2023
36180177 (PubMed )
Supplement: bjo-2022-321511supp006.pdf
Clonal evidence for the development of neuroblastoma with extensive copy-neutral loss of heterozygosity arising in a mature teratoma.
Ono R et al.
Cancer Science, 2021
33934450 (PubMed )
Supplement: CAS-112-2921-s001.xlsx › Dataset_S1
Novel sequence variants in the human xylosyltransferase I gene and their role in diabetic nephropathy.
Bahr C et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2006
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