blood vessel epicardial substance [Homo sapiens]

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A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25. [Clin Genet. 2023]
A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.
Mahmood A, Samad A, Shah AA, Wadood A, Alkathiri A, Alshehri MA, Alam MZ, Hussain T, He P, Umair M. Clin Genet. 2023 Feb; 103(2):219-225. Epub 2022 Oct 17.
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1). [Mol Genet Metab. 2022]
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
Gangfuß A, Hentschel A, Heil L, Gonzalez M, Schönecker A, Depienne C, Nishimura A, Zengeler D, Kohlschmidt N, Sickmann A, et al. Mol Genet Metab. 2022 Jul; 136(3):226-237. Epub 2022 May 29.
The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population. [Genet Test Mol Biomarkers. 2019]
The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population.
Shi Y, Li Y, Wang Y, Zhuang J, Wang H, Hu M, Mo X, Yue S, Chen Y, Fan X, et al. Genet Test Mol Biomarkers. 2019 Sep; 23(9):601-609. Epub 2019 Aug 6.

RefSeq genomic sequence
See the genomic reference sequence for the POPDC1 gene (NG_046732.1).
RefSeq mRNA
See reference mRNA sequence for the POPDC1 gene (NM_001199563.2).

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SNP
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NP_001186492 [Domain Mapping of Disease Mut...]
NP_001186492
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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