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

Sah, H.
Sanlidag, B.
Manara, E.
Terali, K.
Paolacci, S.
Mocan, G.
Temel, Şehime Gülsün
Dirik, E.
Bertelli, M.
Ergören, M. C.

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Publisher

Wiley

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Keywords

Science & technology, Life sciences & biomedicine, Biochemistry & molecular biology

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