A curated gene list for reporting results of newborn genomic sequencing.
about
Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.From public health genomics to precision public health: a 20-year journey.Newborn Screening: Beyond the Spot.The BabySeq project: implementing genomic sequencing in newbornsReconciling newborn screening and a novel splice variant in associated with partial biotinidase deficiency: a BabySeq Project case report
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A curated gene list for reporting results of newborn genomic sequencing.
description
2017 nî lūn-bûn
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name
A curated gene list for reporting results of newborn genomic sequencing.
@en
A curated gene list for reporting results of newborn genomic sequencing.
@nl
type
label
A curated gene list for reporting results of newborn genomic sequencing.
@en
A curated gene list for reporting results of newborn genomic sequencing.
@nl
prefLabel
A curated gene list for reporting results of newborn genomic sequencing.
@en
A curated gene list for reporting results of newborn genomic sequencing.
@nl
P2860
P50
P356
P1433
P1476
A curated gene list for reporting results of newborn genomic sequencing
@en
P2093
Amy McGuire
Kalotina Machini
P2860
P2888
P304
P356
10.1038/GIM.2016.193
P407
P50
P577
2017-01-12T00:00:00Z