A citation-based method for searching scientific literature

A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.
Haisheng Zeng, Mingyu Xie, Jianbo Li, Haoqiang Xie, Xiaomei Lu. Int J Pediatr Otorhinolaryngol 2021
Times Cited: 2



TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
C A Wise, L C Chiang, W A Paznekas, M Sharma, M M Musy, J A Ashley, M Lovett, E W Jabs. Proc Natl Acad Sci U S A 1997
Times Cited: 113




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Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome.
Bożena Anna Marszałek-Kruk, Piotr Wójcicki. Hum Genome Var 2021
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