Publications:

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: BBS: 830G>A

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

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Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.

The Journal Of Biological Chemistry

Zhang, Qihong Q; Yu, Dahai D; Seo, Seongjin S; Stone, Edwin M EM; Sheffield, Val C VC

Publication Date: 2012-06-08

Variant appearance in text: BBS: G277E

PubMed Link: 22500027

Variant Present in the following documents:

• Main text
• zbc20625.pdf

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