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Nature Genetics|August 27, 2013
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator genePatrick R Sosnay, Karen R Siklosi, Fredrick Van Goor, et al.
JCI Insight|March 22, 2022
CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftorKaren S Raraigh, Kathleen C Paul, Jennifer L Goralski, et al.
Nature Communications|June 8, 2021
A deep learning approach to identify gene targets of a therapeutic for human splicing disordersDadi Gao, Elisabetta Morini, Monica Salani, et al.
Biorxiv : the Preprint Server for Biology|January 23, 2026
SPEF1 mediates assembly of the central pair microtubule complexes in cilia of TetrahymenaMayukh Guha, Krishna Kumar Vasudevan, Yu-Yang Jiang, et al.
Pigment Cell & Melanoma Research|August 30, 2018
The tumor suppressor BAP1 cooperates with BRAFV600E to promote tumor formation in cutaneous melanomaJoshua D Webster, Trang H Pham, Xiumin Wu, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 21, 2019
Crop variety management for climate adaptation supported by citizen scienceJacob van Etten, Kauê de Sousa, Amílcar Aguilar, et al.
Annals of Translational Medicine|August 25, 2021
Multimodality carotid plaque tissue characterization and classification in the artificial intelligence paradigm: a narrative review for stroke applicationLuca Saba, Skandha S Sanagala, Suneet K Gupta, et al.
Leukemia|October 14, 2024
Functional variant rs9344 at 11q13.3 regulates CCND1 expression in multiple myeloma with t(11;14)Hongwei Tang, Huihuang Yan, Suganti Shivaram, et al.
The New England Journal of Medicine|October 17, 2019
Randomized Trial of Medical versus Surgical Treatment for Refractory HeartburnStuart J Spechler, John G Hunter, Karen M Jones, et al.
Acta Neuropathologica|July 10, 2020
Insulin-like growth factor 2 (IGF2) protects against Huntington's disease through the extracellular disposal of protein aggregatesPaula García-Huerta, Paulina Troncoso-Escudero, Di Wu, et al.
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