Curating the gnomAD database: Report of novel variants in the globin‐coding genes and bioinformatics analysis-Reference-Cited by-同舟云学术

Curating the gnomAD database: Report of novel variants in the globin‐coding genes and bioinformatics analysis

Published:2019-10-14 Issue:1 Volume:41 Page:81-102
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Scheps Karen G.¹²^ORCID,Hasenahuer Marcia A.³⁴⁵^ORCID,Parisi Gustavo³,Targovnik Héctor M.¹²,Fornasari María S.³

Affiliation:

1. Departamento de Microbiología, Inmunología, Biotecnología y Genética, Cátedra de Genética, Facultad de Farmacia y BioquímicaUniversidad de Buenos AiresBuenos Aires Argentina

2. Instituto de Inmunología, Genética y Metabolismo (INIGEM)Universidad de Buenos Aires ‐ CONICETBuenos Aires Argentina

3. Departamento de Ciencia y TecnologíaUniversidad Nacional de QuilmesBernal Argentina

4. European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL‐EBI)Wellcome Trust Genome CampusHinxton United Kingdom

5. Department of Medical Genetics, Cambridge Institute for Medical ResearchUniversity of CambridgeCambridge United Kingdom

Funder

Agencia Nacional de Promoción Científica y Tecnológica

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23925

Reference62 articles.

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5. Hemoglobin J meerut: α120 Ala→Glu

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