Associated Papers
NOTCH2 variant D1853H is mutated in two non-syndromic premature ovarian insufficiency patients from a Chinese pedigree.
Li L et al.
Journal of Ovarian Research, 2020
32312275 (PubMed )
Supplement: 13048_2020_645_MOESM4_ESM.xlsx › Supp_Table_1
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2019
Mutational analysis of PRNP in Alzheimer's disease and frontotemporal dementia in China.
Zhang W et al.
Scientific Reports, 2016
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