Publications:

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: MED16: A83A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2

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The SAGA complex regulates early steps in transcription via its deubiquitylase module subunit USP22.

The Embo Journal

Stanek, Timothy J TJ; Gennaro, Victoria J VJ; Tracewell, Mason A MA; Di Marcantonio, Daniela D; Pauley, Kristen L KL; Butt, Sabrina S; McNair, Christopher C; Wang, Feng F; Kossenkov, Andrew V AV; Knudsen, Karen E KE; Butt, Tauseef T; Sykes, Stephen M SM; McMahon, Steven B SB

Publication Date: 2021-08-16

Variant appearance in text: MED16: A83A

PubMed Link: 34155658

Variant Present in the following documents:

• Main text

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