The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
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Under ACMG guidelines with evidence PVS1 and PM2, the c.712-2A>G variant is classified as likely pathogenic.
“According to the American College of Medical Genetics and Genomics (ACMG) guidelines (Miller et al., 2021), with the following evidence: PVS1 and PM2, the c.712–2A>G variant is classified as “likely pathogenic.””
From Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient (2023) · cites this paper as Miller et al., 2021
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Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
Self-citationOrmondroyd, E., Mackley, M. P., Blair, E., Craft, J., Knight, J. C., Taylor, J. C., Taylor, J., & Watkins, H. (2018) · Genetics in Medicine · doi:10.1038/gim.2017.157 · Cited by 70
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Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient
Gao, S.-Y., Liu, Y.-X., Dong, Y., Fan, L.-L., Ding, Q., & Liu, L. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1205052 · Cited by 2
Metadata
- Authors
- Miller, D. T., Lee, K., Gordon, A. S., Amendola, L. M., Adelman, K., Bale, S. J., Chung, W. K., Gollob, M. H., Harrison, S. M., Herman, G. E., Hershberger, R. E., Klein, T. E., McKelvey, K., Richards, C. S., Vlangos, C. N., Stewart, D. R., Watson, M. S., & Martin, C. L.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2021-08
- Volume
- 23
- Issue
- 8
- Pages
- 1391-1398
- ISSN
- 1098-3600
- PMC
- PMC12175738
- Cited by
- 251
- References
- 2
- Language
- en
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