Publications:

Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.

Bioscience Reports

Qu, Ling-Hui LH; Jin, Xin X; Zeng, Chao C; Zhou, Nian-Gou NG; Liu, Yan-Hong YH; Lin, Ye Y

Publication Date: 2021-06-25

Variant appearance in text: ABCA4: 5509C>T

PubMed Link: 33988224

Variant Present in the following documents:

• Main text
• bsr-41-bsr20203497.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: ABCA4: P1837S

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page