Significance of variant annotation for molecular diagnosis of thalassaemia
J Clin Pathol
.
2021 Oct;74(10):676-677.
doi: 10.1136/jclinpath-2020-207045.
Epub 2020 Oct 20.
Authors
Kok-Siong Poon
1
2
,
Evelyn Siew-Chuan Koay
2
,
Karen Mei-Ling Tan
3
Affiliations
1
Department of Laboratory Medicine, National University Hospital, Singapore kok_siong_poon@nuhs.edu.sg.
2
Department of Pathology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
3
Department of Laboratory Medicine, National University Hospital, Singapore.
PMID:
33082162
DOI:
10.1136/jclinpath-2020-207045
No abstract available
Keywords:
genetics; hemoglobinopathies; thalassaemia.
Publication types
Letter
MeSH terms
Data Mining
Genetic Variation*
Humans
Pathology, Molecular
beta-Globins / genetics*
beta-Thalassemia / diagnosis*
beta-Thalassemia / genetics
Substances
beta-Globins