A novel case with biallelic VPS35L variants confirms VPS35L as a causative gene of 3C/Ritscher-Schinzel-like syndrome
A novel case with biallelic VPS35L variants confirms VPS35L as a causative gene of 3C/Ritscher-Schinzel-like syndrome
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具有双等位基因 VPS35L 变异的新病例证实 VPS35L 是 3C/Ritscher-Schinzel 样综合征的致病基因
DOI:
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发表时间:
2020
期刊:
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通讯作者:
Saitoh S
中科院分区:
文献类型:
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作者:
Otsuji S;Kato K;Mizuno S;Miyatake S;Matsumoto N;Saitoh S