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Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family.

Jingyun Dong | Nori Williams | Marina Cerrone | Christopher Borck | Dawei Wang | Bo Zhou | Lucy S Eng | Ekaterina Subbotina | Sung Yon Um | Ying Lin | Kevin Ruiter | Lisa Rojas | William A Coetzee | Barbara A Sampson | Yingying Tang
Heliyon | 2018

Molecular testing of the deceased (Molecular Autopsy) is an overlooked area in the United States healthcare system and is not covered by medical insurance, leading to ineffective care for surviving families of thousands of sudden unexpected natural deaths each year. We demonstrated the precision management of surviving family members through the discovery of a novel de novo pathogenic variant in a decedent.

Pubmed ID: 30582040

Research resources used in this publication

None found

Antibodies used in this publication

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Associated grants

None

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SigmaPlot (tool)

RRID:SCR_003210

Statistical analysis and scientific graphing software for Windows OS.

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pClamp (tool)

RRID:SCR_011323

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HEK293 (tool)

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