Lv5
1257 积分 2022-05-11 加入
[A Chinese interpretation for the "ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020"]
1个月前
已完结
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
3个月前
已完结
Heterozygous variants in USP25 cause genetic generalized epilepsy
5个月前
已关闭
Heterozygous variants in USP25 cause genetic generalized epilepsy
5个月前
已完结
Heterozygous variants in USP25 cause genetic generalized epilepsy
5个月前
已完结
Listening to silence and understanding nonsense: exonic mutations that affect splicing
6个月前
已完结
Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
6个月前
已完结
PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China
6个月前
已完结
Novel human pathological mutations
6个月前
已完结
Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss‐of‐function vs missense variants
6个月前
已完结
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