Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation-Reference-Cited by-同舟云学术

Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation

Published:2022-05 Issue:5 Volume:2 Page:100131
ISSN:2666-979X
Container-title:Cell Genomics
language:en
Short-container-title:Cell Genomics

Author:

Thaxton Courtney^ORCID,Goldstein Jennifer,DiStefano Marina^ORCID,Wallace Kathleen,Witmer P. Dane,Haendel Melissa A.,Hamosh Ada,Rehm Heidi L.,Berg Jonathan S.

Funder

National Institutes of Health

National Human Genome Research Institute

National Institutes of Health Office of the Director

Office of the Director

Publisher

Elsevier BV

Reference61 articles.

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4. International cooperation to enable the diagnosis of all rare genetic diseases;Boycott;Am. J. Hum. Genet.,2017

5. Lumping and splitting: molecular biology in the genetics clinic;Biesecker;Clin. Genet.,1998

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