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Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130.
Hum Mol Genet. 2023.
PMID: 37552066
Free PMC article.
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC, Dai H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG, Kim H, Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E, Silverman GA, Baldridge D, Wambach JA; Undiagnosed Diseases Network; Pak SC, Brody SL, Schedl T.
Huang H, et al. Among authors: dawson zd.
Proc Natl Acad Sci U S A. 2022 Feb 8;119(6):e2105228119. doi: 10.1073/pnas.2105228119.
Proc Natl Acad Sci U S A. 2022.
PMID: 35121658
Free PMC article.
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CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans.
Thomas BJ, Wight IE, Chou WYY, Moreno M, Dawson Z, Homayouni A, Huang H, Kim H, Jia H, Buland JR, Wambach JA, Cole FS, Pak SC, Silverman GA, Luke CJ.
Thomas BJ, et al.
PLoS One. 2019 Mar 26;14(3):e0214257. doi: 10.1371/journal.pone.0214257. eCollection 2019.
PLoS One. 2019.
PMID: 30913273
Free PMC article.
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