Can pathology help in functional interpretation of genetic variants - A case report of Novel variants in NARS2 gene with mitochondrial dysfunction presenting as early infantile epileptic encephalopathy with cardiac and skeletal muscle involvement

被引：0

作者：

Heredia, Wilson

Lichter-Konecki, Uta

Walsh, Leslie

Ozolek, John ^{[1
]}

Murdoch, Geoffrey ^{[2
]}

Rajan, Deepa ^{[3
]}

机构：

[1] UPMC, Childrens Hosp, Pathol, Pittsburgh, PA USA

[2] UPMC, Presbyterian Hosp, Pathol, Pittsburgh, PA USA

[3] Childrens Hosp Pittsburgh, Pittsburgh, PA 15213 USA

来源：

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D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

P4.6-063

引用

页数：2