Detalhe da pesquisa
1.
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Hum Mutat
; 43(12): 1673-1705, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150100
2.
Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.
Orphanet J Rare Dis
; 17(1): 421, 2022 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36461014
3.
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Front Genet
; 11: 577152, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33281875