RYR1 c.2229C>T ;(p.I743=)

Variant ID: 19-38949847-C-T

NM_000540.2(RYR1):c.2229C>T;(p.I743=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International
Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M
Publication Date: 2020

Variant appearance in text: RYR1: 2229C>T; I743I
PubMed Link: 32489320
Variant Present in the following documents:
  • 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1
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An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle.

Plos One
Drögemüller, Cord C; Reichart, Ursula U; Seuberlich, Torsten T; Oevermann, Anna A; Baumgartner, Martin M; Kühni Boghenbor, Kathrin K; Stoffel, Michael H MH; Syring, Claudia C; Meylan, Mireille M; Müller, Simone S; Müller, Mathias M; Gredler, Birgit B; Sölkner, Johann J; Leeb, Tosso T
Publication Date: 2011-04-15

Variant appearance in text: MHS: 2229C>T
PubMed Link: 21526202
Variant Present in the following documents:
  • Main text
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