Literature DB >> 32341575

Response to Maya et al.

Erin Rooney Riggs1, Erica F Andersen2,3, Sibel Kantarci4, Hutton Kearney5, Ankita Patel6, Gordana Raca7, Deborah I Ritter8, Sarah T South9, Erik C Thorland5, Daniel Pineda-Alvarez10, Swaroop Aradhya10,11, Christa Lese Martin1.   

Abstract

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Mesh：

Year:  2020        PMID： 32341575     DOI： 10.1038/s41436-020-0796-3

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  2 in total

1.  Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families.

Authors:  Jialinzi He; Haiyun Tang; Chaorong Liu; Langzi Tan; Wenbiao Xiao; Bo Xiao; Hongyu Long; Lili Long
Journal:  Exp Ther Med       Date:  2021-03-18       Impact factor: 2.447

2.  Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance.

Authors:  Kuo Zhang; Guigao Lin; Dongsheng Han; Yanxi Han; Rongxue Peng; Jinming Li
Journal:  Front Genet       Date:  2022-03-10       Impact factor: 4.599
  2 in total

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