Publications:

Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Life Science Alliance

Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P

Publication Date: 2022-10-13

Variant appearance in text: CFTR: Asn417Lys

PubMed Link: 36229065

Variant Present in the following documents:

• LSA-2022-01551_TableS16.xlsx, sheet 1

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Notch signaling and efficacy of PD-1/PD-L1 blockade in relapsed small cell lung cancer.

Nature Communications

Roper, Nitin N; Velez, Moises J MJ; Chiappori, Alberto A; Kim, Yoo Sun YS; Wei, Jun S JS; Sindiri, Sivasish S; Takahashi, Nobuyuki N; Mulford, Deborah D; Kumar, Suresh S; Ylaya, Kris K; Trindade, Christopher C; Manukyan, Irena I; Brown, Anna-Leigh AL; Trepel, Jane B JB; Lee, Jung-Min JM; Hewitt, Stephen S; Khan, Javed J; Thomas, Anish A

Publication Date: 2021-06-23

Variant appearance in text: CFTR: N417K

PubMed Link: 34162872

Variant Present in the following documents:

• 41467_2021_24164_MOESM3_ESM.xlsx, sheet 2

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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes

Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A

Publication Date: 2021-01-31

Variant appearance in text: CFTR: N417K

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

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A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.

Molecular Genetics & Genomic Medicine

Zhu, Ruizheng R; Xu, Jie J; Shen, Juan J; Li, Wenru W; Tan, Fei F; Li, Changchang C; Wei, Zhichen Z; Liu, Yeqiang Y; Bai, Yun Y

Publication Date: 2020-10

Variant appearance in text: CFTR: N417K

PubMed Link: 32783365

Variant Present in the following documents:

• MGG3-8-e1441-s004.xlsx, sheet 2

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[Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Li, Hua H; Qiu, Jian-Wu JW; Lin, Gui-Zhi GZ; Deng, Mei M; Lin, Wei-Xia WX; Cheng, Ying Y; Song, Yuan-Zong YZ

Publication Date: 2018-04

Variant appearance in text: CFTR: N417K

PubMed Link: 29658451

Variant Present in the following documents:

• Main text

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