about
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.Expanded phenotype in a patient with spastic paraplegia 7.A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.
P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Jennifer M Gass
@en
Jennifer M Gass
@nl
type
label
Jennifer M Gass
@en
Jennifer M Gass
@nl
prefLabel
Jennifer M Gass
@en
Jennifer M Gass
@nl
P31
P496
0000-0001-8189-4189