Full text in PMC (nucleotide) for Gene (Select 688394) - PMC

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Items: 2

Select item 65811491.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Abolfazl Rad, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N James, Ahmet Okay Çağlayan, Maryam Najafi, Valentina Stanley, Rose-Mary Boustany, Gözde Yeşil, Afsaneh Sahebzamani, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Kaman Wu, Peter Bauer, Zeineb Bakey, Joseph G Gleeson, Natalie Hauser, Murat Gunel, Hulya Kayserili, Miriam Schmidts

J Med Genet. 2019 May; 56(5): 332–339. Published online 2018 Nov 28. doi: 10.1136/jmedgenet-2018-105623

PMCID:: PMC6581149

Abstract Article PDF–1.0M

Select item 5402772.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405