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Summary Anatomy Item Literature (1267) Expression Attributions Wiki
XB-ANAT-558

Papers associated with cranium (and atp1a1)

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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease., Cinarli Yuksel F., J Neurol. May 1, 2023; 270 (5): 2576-2590.            

Cilia-localized GID/CTLH ubiquitin ligase complex regulates protein homeostasis of sonic hedgehog signaling components., Hantel F., J Cell Sci. May 1, 2022; 135 (9):                                     

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2., Lassuthova P., Am J Hum Genet. March 1, 2018; 102 (3): 505-514.

Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing., del Viso F., BMC Genomics. November 21, 2012; 13 649.                  

Residues of the fourth transmembrane segments of the Na,K-ATPase and the gastric H,K-ATPase contribute to cation selectivity., Mense M., J Biol Chem. January 21, 2000; 275 (3): 1749-56.

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