NOTCH1 c.3103A>T ;(p.T1035S)

Variant ID: 9-139403390-T-A

NM_017617.3(NOTCH1):c.3103A>T;(p.T1035S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.

Ebiomedicine
Lam, Wai-Yee WY; Tang, Clara Sze-Man CS; So, Man-Ting MT; Yue, Haibing H; Hsu, Jacob Shujui JS; Chung, Patrick Ho-Yu PH; Nicholls, John M JM; Yeung, Fanny F; Lee, Chun-Wai Davy CD; Ngo, Diem Ngoc DN; Nguyen, Pham Anh Hoa PAH; Mitchison, Hannah M HM; Jenkins, Dagan D; O'Callaghan, Christopher C; Garcia-Barceló, Maria-Mercè MM; Lee, So-Lun SL; Sham, Pak-Chung PC; Lui, Vincent Chi-Hang VC; Tam, Paul Kwong-Hang PK
Publication Date: 2021-09

Variant appearance in text: NOTCH1: T1035S
PubMed Link: 34455394
Variant Present in the following documents:
  • Main text
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