Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

Defects in tubulin beta 2A class IIa (TUBB2A) are associated with a range of complex cerebral cortex dysplasias.1 Despite several studies reporting NM_001069.3:c.743C>T p.(Ala248Val) as a recurrent pathogenic mutation,1 2 it is listed in ClinVar with conflicting interpretations. To resolve these...

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Main Authors:	Ragoussis, V, Pagnamenta, AT, Haines, RL, Giacopuzzi, E, McClatchey, MA, Sampson, JR, Suri, M, Gardham, A, Cobben, J-M, Osio, D, Fry, AE, Genomics England Research Consortium, Taylor, JC
Format:	Journal article
Sprog:	English
Udgivet:	BMJ Publishing Group 2021

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

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