A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships-Reference-Cited by-同舟云学术

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A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

Published:2018-05 Issue:5 Volume:102 Page:943-955
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Mighell Taylor L.,Evans-Dutson Sara,O’Roak Brian J.

Funder

NARSAD Young Investigator Grant from the Brain and Behavior Research Foundation through the NARSAD-Atherton Foundation Young Investigator Award

Sloan Research Fellowship in Neurosciences (Alfred P. Sloan Foundation

National Institute of Diabetes and Digestive and Kidney Diseases of the National Institutes of Health

ARCS scholar

Klingenstein-Simons Fellow

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference79 articles.

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2. An extended set of yeast-based functional assays accurately identifies human disease mutations;Sun;Genome Res.,2016

3. Variant interpretation: functional assays to the rescue;Starita;Am. J. Hum. Genet.,2017

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet. Med.,2015

5. Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis;Kato;Proc. Natl. Acad. Sci. USA,2003

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