Publications:

Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: ABCA3: P249L

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

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A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene.

Frontiers In Pediatrics

Wei, Meili M; Fu, Haibo H; Han, Aiqin A; Ma, Liji L

Publication Date: 2020

Variant appearance in text: ABCA3: 746C>T; P249L

PubMed Link: 32363169

Variant Present in the following documents:

• Main text
• fped-08-00138.pdf

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Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.

Respiratory Research

Bækvad-Hansen, Marie M; Nordestgaard, Børge G BG; Dahl, Morten M

Publication Date: 2012-08-06

Variant appearance in text: ABCA3: P249L

PubMed Link: 22866751

Variant Present in the following documents:

View BVdb publication page