Publications:

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

Heliyon

Dong, Jingyun J; Williams, Nori N; Cerrone, Marina M; Borck, Christopher C; Wang, Dawei D; Zhou, Bo B; Eng, Lucy S LS; Subbotina, Ekaterina E; Um, Sung Yon SY; Lin, Ying Y; Ruiter, Kevin K; Rojas, Lisa L; Coetzee, William A WA; Sampson, Barbara A BA; Tang, Yingying Y

Publication Date: 2018-12

Variant appearance in text: KCNH2: Gln1068Ter

PubMed Link: 30582040

Variant Present in the following documents:

• Main text
• main.pdf

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NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology

South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM

Publication Date: 2014-10

Variant appearance in text: KCNH2: Q1068*

PubMed Link: 24662767

Variant Present in the following documents:

• NIHMS57574-supplement-data_tables.xlsx, sheet 2

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