dysferlin isoform 14 [Homo sapiens]

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Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy. [Physiol Rep. 2023]
Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.
Chen YL, Wu WB, Wang P, Yip PK, Wu YN, Lin YH, Lin WN. Physiol Rep. 2023 Dec; 11(24):e15887.
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy. [Neuropathol Appl Neurobiol. 2022]
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
Folland C, Johnsen R, Botero Gomez A, Trajanoski D, Davis MR, Moore U, Straub V, Barresi R, Guglieri M, Hayhurst H, et al. Neuropathol Appl Neurobiol. 2022 Dec; 48(7):e12846. Epub 2022 Aug 20.
DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene. [Transl Res. 2022]
DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene.
Zhang X, He D, Xiang Y, Wang C, Liang B, Li B, Qi D, Deng Q, Yu H, Lu Z, et al. Transl Res. 2022 Sep; 247:19-38. Epub 2022 Apr 20.

RefSeq genomic sequence
See the genomic reference sequence for the DYSF gene (NG_008694.1).
RefSeq mRNA
See reference mRNA sequence for the DYSF gene (NM_001130981.2).
RefSeq protein isoforms
See 14 reference sequence protein isoforms for the DYSF gene.

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NP_001124453 [Domain Mapping of Disease Mut...]
NP_001124453
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
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reagent reviews [ExactAntigen/Labome]
reagent reviews
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reagents [ExactAntigen/Labome]
reagents
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