A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus-Reference-Cited by-同舟云学术

A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus

Published:2021-08 Issue:10 Volume:42 Page:1239-1253
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Loftus Stacie K.¹^ORCID,Lundh Linnea²,Watkins‐Chow Dawn E.¹^ORCID,Baxter Laura L.¹^ORCID,Pairo‐Castineira Erola³⁴^ORCID,NISC Comparative Sequencing Program ⁵,Jackson Ian J.³⁴,Oetting William S.⁶^ORCID,Pavan William J.¹^ORCID,Adams David R.⁷^ORCID

Affiliation:

1. Genetic Disease Research Branch, National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA

2. Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA

3. Roslin Institute University of Edinburgh, Easter Bush Edinburgh UK

4. MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital University of Edinburgh Edinburgh UK

5. NIH Intramural Sequencing Center, National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA

6. Department of Experimental and Clinical Pharmacology University of Minnesota Minneapolis Minnesota USA

7. Office of the Clinical Director, National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24257

Reference92 articles.

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4. Importance of nonsynonymous OCA 2 variants in human eye color prediction

5. Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A, Not MYO5A

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