Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
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Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
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name
Whole exome sequencing identif ...... nd Treacher Collins syndromes.
@en
Whole exome sequencing identif ...... nd Treacher Collins syndromes.
@nl
type
label
Whole exome sequencing identif ...... nd Treacher Collins syndromes.
@en
Whole exome sequencing identif ...... nd Treacher Collins syndromes.
@nl
prefLabel
Whole exome sequencing identif ...... nd Treacher Collins syndromes.
@en
Whole exome sequencing identif ...... nd Treacher Collins syndromes.
@nl
P2093
P2860
P50
P356
P1476
Whole exome sequencing identif ...... nd Treacher Collins syndromes.
@en
P2093
Alberto Santiago-Cornier
Alex Stoddard
Amy Turner
Cathy L Raggio
Enid Neptune
Janet Livingston
Kristen Rasmussen
Michael Pickart
Nara Sobrera
Philip F Giampietro
P2860
P304
P356
10.1002/AJMG.A.36799
P407
P577
2014-10-27T00:00:00Z