Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in
KANSL1
clinical evaluation
copy number polymorphisms
variant interpretation
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
09 10 2020
09 10 2020
Historique:
received:
31
08
2020
revised:
30
09
2020
accepted:
07
10
2020
entrez:
14
10
2020
pubmed:
15
10
2020
medline:
16
7
2021
Statut:
epublish
Résumé
Massive parallel sequencing of 70 genes in a girl with a suspicion of chromatinopathy detected the (NM_015443.4:)c.985_986delTT variant in exon 2 of
Identifiants
pubmed: 33050294
pii: genes11101177
doi: 10.3390/genes11101177
pmc: PMC7600039
pii:
doi:
Substances chimiques
NSL1 protein, human
0
Nuclear Proteins
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
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