Homo sapiens ryanodine receptor 1 (RYR1), transcript variant 1, mRNA

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Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies. [Prenat Diagn. 2024]
Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.
Jackson M, Thomas MA, Suchet I, Mahallati H, Kuret V, Lauzon J. Prenat Diagn. 2024 Apr; 44(4):522-526. Epub 2024 Mar 23.
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice. [J Gen Physiol. 2024]
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.
Benucci S, Ruiz A, Franchini M, Ruggiero L, Zoppi D, Sitsapesan R, Lindsay C, Pelczar P, Pietrangelo L, Protasi F, et al. J Gen Physiol. 2024 Apr 1; 156(4). Epub 2024 Mar 4.
Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy. [Cells. 2023]
Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy.
Godbout K, Rousseau J, Tremblay JP. Cells. 2023 Dec 22; 13(1). Epub 2023 Dec 22.

RefSeq alternative splicing
See 10 reference mRNA sequence splice variants for the RYR1 gene.
RefSeq protein product
See the reference protein sequence for ryanodine receptor 1 isoform 1 (NP_000531.2).

Protein
Protein sequence from Nucleotide coding region
PubMed
PubMed articles cited by Nucleotide sequence record
Taxonomy
Taxonomy sequences associated with Nucleotide record
Annotated Genomic
Genomic sequence records that have the current RNA records as annotated features marking the exons of genes.
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Functional Class
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OMIM
OMIM records associated with Nucleotide sequence
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PubMed (RefSeq)
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Aeoliscus strigatus[orgn] (53)
Nucleotide
Homo sapiens nuclear receptor subfamily 1 group I member 3 (NR1I3), transcript v...
Homo sapiens nuclear receptor subfamily 1 group I member 3 (NR1I3), transcript variant 14, mRNA
gi|1677538783|ref|NM_001077477.3|

Nucleotide

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Nucleotide