calpain-15 [Homo sapiens]

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Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay. [Clin Genet. 2021]
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.
Mor-Shaked H, Salah S, Yanovsky-Dagan S, Meiner V, Atawneh OM, Abu-Libdeh B, Elpeleg O, Harel T. Clin Genet. 2021 Apr; 99(4):577-582. Epub 2021 Jan 13.
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. [Am J Med Genet A. 2023]
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
Beaman MM, Guidugli L, Hammer M, Barrows C, Gregor A, Lee S, Deak KL, McDonald MT, Jensen C, Zaki MS, et al. Am J Med Genet A. 2023 Nov; 191(11):2757-2767. Epub 2023 Aug 19.
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. [Hum Mol Genet. 2020]
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
Zha C, Farah CA, Holt RJ, Ceroni F, Al-Abdi L, Thuriot F, Khan AO, Helaby R, Lévesque S, Alkuraya FS, et al. Hum Mol Genet. 2020 Nov 4; 29(18):3054-3063.

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NP_005623 [Domain Mapping of Disease Mut...]
NP_005623
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

calpain-15 isoform X1 [Homo sapiens]
calpain-15 isoform X1 [Homo sapiens]
gi|2462550449|ref|XP_054169740.1|

Protein
calpain-15 isoform X5 [Homo sapiens]
calpain-15 isoform X5 [Homo sapiens]
gi|2462550469|ref|XP_054169750.1|

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