cytoplasmic dynein 1 heavy chain 1 [Homo sapiens]

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DYNC1H1-Related Disorders. [GeneReviews(®). 1993]
DYNC1H1-Related Disorders.
Möller B, Coppola A, Jungbluth H, Dafsari HS. GeneReviews(®). 1993-2024. 2024 Mar 21
Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation. [BMC Med Genomics. 2023]
Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation.
Mei Y, Jiang Y, Zhang Z, Zhang H. BMC Med Genomics. 2023 Mar 7; 16(1):47. Epub 2023 Mar 7.
[Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1]. [Zhonghua Er Ke Za Zhi. 2023]
[Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1].
Yang CJ, Wang S, Tan DD, Liu YD, Fan YB, Wei CJ, Song DY, Zhu Y, Xiong H. Zhonghua Er Ke Za Zhi. 2023 Feb 2; 61(2):154-158.

RefSeq genomic sequence
See the genomic reference sequence for the DYNC1H1 gene (NG_008777.1).
RefSeq mRNA
See reference mRNA sequence for the DYNC1H1 gene (NM_001376.5).

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NP_001367 [Domain Mapping of Disease Mut...]
NP_001367
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)
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OncoMX cancer biomarker resource
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reagents
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