Publications:

Clinical application value of expanded carrier screening in the population of childbearing age.

European Journal Of Medical Research

Fang, Yuqin Y; Li, Jingran J; Zhang, Miaomiao M; Cheng, Yuan Y; Wang, Chaohong C; Zhu, Jiansheng J

Publication Date: 2023-04-08

Variant appearance in text: SMN1: D96N

PubMed Link: 37031186

Variant Present in the following documents:

• Main text

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NeoR, a near-infrared absorbing rhodopsin.

Nature Communications

Broser, Matthias M; Spreen, Anika A; Konold, Patrick E PE; Peter, Enrico E; Adam, Suliman S; Borin, Veniamin V; Schapiro, Igor I; Seifert, Reinhard R; Kennis, John T M JTM; Bernal Sierra, Yinth Andrea YA; Hegemann, Peter P

Publication Date: 2020-11-10

Variant appearance in text: SMA: D96N

PubMed Link: 33173168

Variant Present in the following documents:

• 41467_2020_19375_MOESM1_ESM.pdf

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Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.

Journal Of Clinical Medicine

Pensato, Viviana V; Magri, Stefania S; Bella, Eleonora Dalla ED; Tannorella, Pierpaola P; Bersano, Enrica E; Sorarù, Gianni G; Gatti, Marta M; Ticozzi, Nicola N; Taroni, Franco F; Lauria, Giuseppe G; Mariotti, Caterina C; Gellera, Cinzia C

Publication Date: 2020-02-03

Variant appearance in text: SMA: D96N

PubMed Link: 32028661

Variant Present in the following documents:

• Main text
• jcm-09-00412.pdf

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