Lv2
150 积分 2024-12-19 加入
Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts
1个月前
已完结
Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia
1个月前
已完结
HNRNPH2 variant linked to intellectual disability disrupts myelination by impairing oligodendrocyte differentiation
1个月前
已完结
Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia
1个月前
已完结
Non‐Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis
4个月前
已完结
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