RYR1 c.881A>T ;(p.E294V)

Variant ID: 19-38939075-A-T

NM_000540.2(RYR1):c.881A>T;(p.E294V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Human Mutation
Laing, Nigel G NG; Dye, Danielle E DE; Wallgren-Pettersson, Carina C; Richard, Gabriele G; Monnier, Nicole N; Lillis, Suzanne S; Winder, Thomas L TL; Lochmüller, Hanns H; Graziano, Claudio C; Mitrani-Rosenbaum, Stella S; Twomey, Darren D; Sparrow, John C JC; Beggs, Alan H AH; Nowak, Kristen J KJ
Publication Date: 2009-09

Variant appearance in text: RYR1: Glu294Val
PubMed Link: 19562689
Variant Present in the following documents:
  • Main text
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