Publication: Phenotype does not necessarily follow genotype: Identification of an incompletely penetrant novel POLR1D variant as a likely cause of Treacher Collins syndrome
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Date
2018-07-01
Authors
Authors
Sah, H.
Sanlidag, B.
Manara, E.
Terali, K.
Paolacci, S.
Mocan, G.
Temel, Şehime Gülsün
Dirik, E.
Bertelli, M.
Ergören, M. C.
Journal Title
Journal ISSN
Volume Title
Publisher
Wiley
Abstract
Description
Keywords
Science & technology, Life sciences & biomedicine, Biochemistry & molecular biology