sarcosynapsin [Homo sapiens]

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Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8. [Orphanet J Rare Dis. 2022]
Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
Yuan H, Wang Q, Zeng X, He P, Xu W, Guo H, Liu Y, Lin Y. Orphanet J Rare Dis. 2022 Apr 4; 17(1):149. Epub 2022 Apr 4.
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8. [Mol Genet Genomic Med. 2021]
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
Yi S, Zhang Y, Qin Z, Yi S, Zheng H, Luo J, Li Q, Wang J, Yang Q, Li M, et al. Mol Genet Genomic Med. 2021 Jun; 9(6):e1683. Epub 2021 May 12.
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes. [Mol Genet Genomic Med. 2020]
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Yeung KS, Yu FNY, Fung CW, Wong S, Lee HHC, Fung STH, Fung GPG, Leung KY, Chung WH, Lee YT, et al. Mol Genet Genomic Med. 2020 Jul; 8(7):e1229. Epub 2020 Apr 30.

RefSeq genomic sequence
See the genomic reference sequence for the KLHL40 gene (NG_033035.1).
RefSeq protein
See the reference protein sequence for kelch-like protein 40 (NP_689606.2).

Nucleotide
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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

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Protein