Detalhe da pesquisa
1.
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Hum Mutat
; 43(8): 1089-1096, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510646
2.
Central resources of variant discovery and annotation and its role in precision medicine.
Asian Biomed (Res Rev News)
; 16(6): 285-298, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551357
3.
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Elife
; 112022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36453528
4.
Harmonizing the interpretation of genetic variants across the world: the Malaysian experience.
BMC Res Notes
; 9: 125, 2016 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-26915360
5.
The first Malay database toward the ethnic-specific target molecular variation.
BMC Res Notes
; 8: 176, 2015 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25925844