survival motor neuron protein isoform d [Homo sapiens]

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Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature. [Neuromuscul Disord. 2024]
Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature.
Li L, Menezes MP, Smith M, Forbes R, Züchner S, Burgess A, Woodcock IR, Delatycki MB, Yiu EM. Neuromuscul Disord. 2024 Apr; 37:29-35. Epub 2024 Mar 12.
[Analysis of a Chinese pedigree affected with Spinal muscular atrophy due to compound heterozygous variants of SMN gene]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Analysis of a Chinese pedigree affected with Spinal muscular atrophy due to compound heterozygous variants of SMN gene].
Gu Y, Li L, Chen H, Xu L, Fang Y, Xu X, Long Y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Nov 10; 40(11):1387-1391.
SMN haploinsufficiency promotes ischemia/ reperfusion-induced AKI-to-CKD transition by endoplasmic reticulum stress activation. [FASEB J. 2023]
SMN haploinsufficiency promotes ischemia/ reperfusion-induced AKI-to-CKD transition by endoplasmic reticulum stress activation.
Qian X, Li J, Bian S, Zhu D, Guo Q, Bian F, Jiang G. FASEB J. 2023 Nov; 37(11):e23276.

RefSeq genomic sequence
See the genomic reference sequence for the SMN1 gene (NG_008691.1).
RefSeq mRNA
See reference mRNA sequence for the SMN1 gene (NM_000344.4).
RefSeq protein isoforms
See 46 reference sequence protein isoforms for the SMN1 gene.

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NP_000335 [Domain Mapping of Disease Mut...]
NP_000335
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
Ensembl [Ensembl]
Ensembl
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)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc

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