A comparative analysis of RAS variants in patients with disorders of somatic mosaicism-Reference-Cited by-同舟云学术

A comparative analysis of RAS variants in patients with disorders of somatic mosaicism

Published:2023-03 Issue:3 Volume:25 Page:100348
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Claire Hou Ying-Chen^ORCID,Evenson Michael J.,Corliss Meagan M.,Mahapatra Lily,Aldawood Ali,Carpentieri David F.,Chamlin Sarah L.,Kulungowski Ann M.,Madan-Khetarpal Suneeta,Sebastian Jessica,Pet Mitchell A.,Coughlin Carrie C.,Willing Marcia C.,Pearson Gregory D.,Setty Bhuvana A.,El-Haffaf Zaki,Cottrell Catherine E.,Parikh Bijal A.,Krysiak Kilannin,Schroeder Molly C.,Heusel Jonathan W.,Neidich Julie A.,Cao Yang^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

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3. Diagnostic utility of next-generation sequencing for disorders of somatic mosaicism: a five-year cumulative cohort;McNulty;Am J Hum Genet,2019

4. Guanine nucleotide exchange factors operate by a simple allosteric competitive mechanism;Guo;Biochemistry,2005

5. GTPase activating proteins: structural and functional insights 18 years after discovery;Scheffzek;Cell Mol Life Sci,2005

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1. Correspondence on “The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2” by Lai et al;Genetics in Medicine;2024-07

2. Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome;British Journal of Dermatology;2024-04-16

3. Capillary malformations in a child caused by a novel HRAS mutation;Pediatric Dermatology;2023-11-28