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

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 haplogroups. Currently there are insufficient st...

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Vydáno v:Hum Mutat
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7717623/
https://ncbi.nlm.nih.gov/pubmed/32906214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24107
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