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The variants were characterised with the associated variant caller software.
Several stages of TrpA/TrpB cooperation were identified and trpB variants were characterised.
Causal variants were characterised by selecting exonic and splicing variants, selecting variants with low allele frequency (below 1%%), and discarding the remaining variants with quality below 20.
Variants were characterised as novel if they were previously unreported in the dbSNP129, dbSNP132, 1KG data and our 22 in-house reference exomes (supplementary table 2).
Patients with SP variants were characterised by younger age and higher prevalence of family history of HCM, family history of sudden cardiac death, asymmetric septal hypertrophy, greater maximum LV wall thickness (all p values<0.0005) and an increased incidence of cardiovascular death (p=0.012).
Similar(54)
These variants are characterised by a combination of an absence of E-cadherin expression, a lower expression of oestrogen and progesterone receptors, a higher expression of HER2, a higher Ki67 index, and a higher positivity for cytokeratin GCDFP-15, compared with classic forms.
The central variant is characterised by involvement of the basal ganglia and brainstem without affection of the cortical and subcortical white matter.
This large size gene variant is characterised by deletions or insertions (Floros et al, 1995; Veletza et al, 1996), as shown schematically in Figure 1.
A possibly pathogenic novel missense mutation (c.856T>G/exon 11) and three novel intronic variants (IVS7+36C>T, IVS7+41C>T, IVS7+49del15) were characterised.
Inputs and outputs were characterised.
BMDCs were characterised by FACS.
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