Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
复制标题
SMARCA1 的致病性变异会导致由 NURF 复合物成分调节的 X 连锁神经发育障碍。
DOI:
10.21203/rs.3.rs-3317938/v1
复制
发表时间:
2023
期刊:
影响因子:
--
通讯作者:
P
中科院分区:
文献类型:
--
作者:
Picketts,David;Mirzaa,Ghayda;Yan,Keqin;Relator,Raissa;Timpano,Sara;Yalcin,Binnaz;Collins,Stephan;Ziegler,Alban;Pao,Emily;Oyama,Nora;Brischoux-Boucher,Elise;Piard,Juliette;Monaghan,Kristin;Sacoto,MariaGuillen;Dobyns,William;P