The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
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Cites
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Membrane Fusion and Exocytosis
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Rab‐interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes
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Cited by
Platelet α-granules: Basic biology and clinical correlates
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Platelet secretion: From haemostasis to wound healing and beyond
Golebiewska, E. M., & Poole, A. W. (2015) · Blood Reviews · doi:10.1016/j.blre.2014.10.003 · Cited by 930
Organogenesis and development of the liver
Si-Tayeb, K., Lemaigre, F. P., & Duncan, S. A. (2010) · Developmental Cell · doi:10.1016/j.devcel.2010.01.011 · Cited by 800
Fawaz, R., Baumann, U., Ekong, U., Fischler, B., Hadzic, N., Mack, C. L., McLin, V. A., Molleston, J. P., Neimark, E., Ng, V. L., et al. (2017) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0000000000001334 · Cited by 555
Bach, H., Papavinasasundaram, K. G., Wong, D., Hmama, Z., & Av-Gay, Y. (2008) · Cell Host & Microbe · doi:10.1016/j.chom.2008.03.008 · Cited by 332
Metadata
- Authors
- Gissen, P., Johnson, C. A., Morgan, N. V., Stapelbroek, J. M., Forshew, T., Cooper, W. N., McKiernan, P. J., Klomp, L. W. J., Morris, A. A. M., Wraith, J. E., McClean, P., Lynch, S. A., Thompson, R. J., Lo, B., Quarrell, O. W., Di Rocco, M., Trembath, R. C., Mandel, H., Wali, S., Karet, F. E., Knisely, A. S., Houwen, R. H. J., Kelly, D. A., & Maher, E. R.
- Venue
- Nature Genetics
- Published
- 2004-03-28
- Volume
- 36
- Issue
- 4
- Pages
- 400-404
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1996591375
- Cited by
- 340
- References
- 23
- FWCI
- 6.77
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome. https://app.cochat.ai/papers/10.1038/ng1325
- The paper
- Gissen, P., Johnson, C. A., Morgan, N. V., Stapelbroek, J. M., Forshew, T., Cooper, W. N., McKiernan, P. J., Klomp, L. W. J., Morris, A. A. M., Wraith, J. E., McClean, P., Lynch, S. A., Thompson, R. J., Lo, B., Quarrell, O. W., Di Rocco, M., Trembath, R. C., Mandel, H., Wali, S., . . . Maher, E. R. (2004). Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome. Nature Genetics. https://doi.org/10.1038/ng1325
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.