Publications:

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: RYR1: 848A>G; His283Arg

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

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Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy.

Molecular Syndromology

Dilaver, Nafi N; Mazaheri, Neda N; Maroofian, Reza R; Zeighami, Jawaher J; Seifi, Tahere T; Zamani, Mina M; Sedaghat, Alireza A; Shariati, Gholam Reza GR; Galehdari, Hamid H

Publication Date: 2017-12

Variant appearance in text: RYR1: H283R

PubMed Link: 29456480

Variant Present in the following documents:

• Main text

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RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.

Jama Ophthalmology

Shaaban, Sherin S; Ramos-Platt, Leigh L; Gilles, Floyd H FH; Chan, Wai-Man WM; Andrews, Caroline C; De Girolami, Umberto U; Demer, Joseph J; Engle, Elizabeth C EC

Publication Date: 2013-12

Variant appearance in text: RYR1: 848A>G; H283R

PubMed Link: 24091937

Variant Present in the following documents:

• Main text

View BVdb publication page