Publications:

Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH7: Leu1597Arg

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

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The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International

Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A

Publication Date: 2015

Variant appearance in text: MPD1: L1597R

PubMed Link: 25961035

Variant Present in the following documents:

• Main text
• BMRI2015-714197.pdf

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A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.

Neuromuscular Disorders : Nmd

Clarke, Nigel F NF; Amburgey, Kimberly K; Teener, James J; Camelo-Piragua, Sandra S; Kesari, Akanchha A; Punetha, Jaya J; Waddell, Leigh B LB; Davis, Mark M; Laing, Nigel G NG; Monnier, Nicole N; North, Kathryn N KN; Hoffman, Eric P EP; Dowling, James J JJ

Publication Date: 2013-05

Variant appearance in text: MYH7: 4790T>G; Leu1597Arg

PubMed Link: 23478172

Variant Present in the following documents:

• Main text

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