Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
about
The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review.Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?
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Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
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Whole-exome sequencing is a va ...... from a cohort of 50 families.
@en
Whole-exome sequencing is a va ...... from a cohort of 50 families.
@nl
type
label
Whole-exome sequencing is a va ...... from a cohort of 50 families.
@en
Whole-exome sequencing is a va ...... from a cohort of 50 families.
@nl
prefLabel
Whole-exome sequencing is a va ...... from a cohort of 50 families.
@en
Whole-exome sequencing is a va ...... from a cohort of 50 families.
@nl
P2093
P2860
P50
P356
P1433
P1476
Whole-exome sequencing is a va ...... s from a cohort of 50 families
@en
P2093
Care4Rare Canada Consortium
D A Dyment
D E Bulman
FORGE Canada Consortium
G A Horvath
P2860
P304
P356
10.1111/CGE.13101
P577
2017-12-12T00:00:00Z