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: PC: R137H

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

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Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis.

Jci Insight

Klaver, Elsenoor J EJ; Dukes-Rimsky, Lynn L; Kumar, Brijesh B; Xia, Zhi-Jie ZJ; Dang, Tammie T; Lehrman, Mark A MA; Angel, Peggi P; Drake, Richard R RR; Freeze, Hudson H HH; Steet, Richard R; Flanagan-Steet, Heather H

Publication Date: 2021-11-16

Variant appearance in text: PC: Arg137His

PubMed Link: 34784297

Variant Present in the following documents:

• Main text

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G protein-regulated endocytic trafficking of adenylyl cyclase type 9.

Elife

Lazar, André M AM; Irannejad, Roshanak R; Baldwin, Tanya A TA; Sundaram, Aparna B AB; Gutkind, J Silvio JS; Inoue, Asuka A; Dessauer, Carmen W CW; Von Zastrow, Mark M

Publication Date: 2020-06-09

Variant appearance in text: PC: R137H

PubMed Link: 32515353

Variant Present in the following documents:

• elife-58039.pdf

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Pharmacological chaperoning: a primer on mechanism and pharmacology.

Pharmacological Research

Leidenheimer, Nancy J NJ; Ryder, Katelyn G KG

Publication Date: 2014-05

Variant appearance in text: PC: R137H

PubMed Link: 24530489

Variant Present in the following documents:

• Main text

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