Publications:

Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: DNAH11: 151C>T; R51W

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

The Journal Of Experimental Medicine

Schwerd, Tobias T; Twigg, Stephen R F SRF; Aschenbrenner, Dominik D; Manrique, Santiago S; Miller, Kerry A KA; Taylor, Indira B IB; Capitani, Melania M; McGowan, Simon J SJ; Sweeney, Elizabeth E; Weber, Astrid A; Chen, Liye L; Bowness, Paul P; Riordan, Andrew A; Cant, Andrew A; Freeman, Alexandra F AF; Milner, Joshua D JD; Holland, Steven M SM; Frede, Natalie N; Müller, Miryam M; Schmidt-Arras, Dirk D; Grimbacher, Bodo B; Wall, Steven A SA; Jones, E Yvonne EY; Wilkie, Andrew O M AOM; Uhlig, Holm H HH

Publication Date: 2017-09-04

Variant appearance in text: DNAH11: R51W

PubMed Link: 28747427

Variant Present in the following documents:

• JEM_20161810_sm.pdf

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