RSSDI Repository, Complications of Diabetes Demonstration
RSSDI Repository, Complications of Diabetes Demonstration

Have a Question?

If you have any question you can ask below or enter what you are looking for!

Advanced Search
  • Home/
  • Article /
  • Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

Add to Collection
2020 Dec Clinical Guidelines and Recommendations EM McCormick, MT Lott, MC Dulik, L Shen… - Human …, 2020 - Wiley Online Library

Full Author : ['McCormick, Elizabeth M', 'Lott, Marie T', 'Dulik, Matthew C', 'Shen, Lishuang', 'Attimonelli, Marcella', 'Vitale, Ornella', 'Karaa, Amel', 'Bai, Renkui', 'Pineda-Alvarez, Daniel E', 'Singh, Larry N', 'Stanley, Christine M', 'Wong, Stacey', 'Bhardwaj, Anshu', 'Merkurjev, Daria', 'Mao, Rong', 'Sondheimer, Neal', 'Zhang, Shiping', 'Procaccio, Vincent', 'Wallace, Douglas C', 'Gai, Xiaowu', 'Falk, Marni J']
Journal Title : Human mutation
Chapter : Section8
Journal Year : 2020
Cited by : 59

Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations given unique features of the mtDNA genome, including maternal inheritance, variant heteroplasmy, threshold effect, absence of splicing, and contextual effects of hap..... Read More

Keywords : ['mitochondrial dna variant interpretation', 'acmgamp standard', 'specification', 'guideline']
PubMed Link : https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.24107
Google Scholar Link : https://scholar.google.com/scholar?cites=16873074309778559180&as_sdt=5,44&sciodt=0,44&hl=en&num=20