Suchergebnisse - "non-coding region variants"

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Autoren: Wright, C.F. Quaife, N.M. Ramos-Hernández, L. et al.

Weitere Verfasser: Wright, C.F. Quaife, N.M. Ramos-Hernández, L. et al.

Quelle: Genomics England Research Consortium 2021, 'Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094. https://doi.org/10.1016/j.ajhg.2021.04.025

Schlagwörter: 0301 basic medicine, DNA Copy Number Variations, Developmental Disabilities, 5' UTR variants, clinical genetic testing, Whole Exome Sequencing, Cohort Studies, 03 medical and health sciences, 5' Untranslated Regions, Loss of Function Mutation, Exome Sequencing, Humans, developmental disorders, Genetic Predisposition to Disease, Child, 5', 11 Medical and Health Sciences, Developmental Disabilities/*etiology/pathology, Genetics & Heredity, 0303 health sciences, MEF2 Transcription Factors, developmental disorders, clinical genetic testing, non-coding region variants, 5' UTR variants, 06 Biological Sciences, MEF2 Transcription Factors/genetics, Genomics England Research Consortium, UTR variants, non-coding region variants

Dateibeschreibung: application/pdf

Zugangs-URL: http://www.cell.com/article/S0002929721001841/pdf
https://pubmed.ncbi.nlm.nih.gov/34022131
https://eprints.whiterose.ac.uk/174965/3/MEF2Cmanuscript_AJHG_resub_March2021_clean_CW.pdf
https://research.manchester.ac.uk/en/publications/81b6b315-c593-4fd0-a42b-8130ce2b2a63
https://doi.org/10.1016/j.ajhg.2021.04.025
https://www.research.manchester.ac.uk/portal/en/publications/noncoding-variants-upstream-of-mef2c-cause-severe-developmental-disorder-through-three-distinct-lossoffunction-mechanisms(b986d5b5-cf30-4ae8-bcda-466d0771a76d).html
https://www.well.ox.ac.uk/publications/1146301
https://eprints.whiterose.ac.uk/174965/
https://www.cell.com/ajhg/fulltext/S0002-9297(21)00184-1
https://www.sciencedirect.com/science/article/pii/S0002929721001841
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206381
http://hdl.handle.net/10044/1/89704
https://ora.ox.ac.uk/objects/uuid:7de35748-f5d9-4198-87a1-5a081a7efe15
https://doi.org/10.1016/j.ajhg.2021.04.025
https://research.manchester.ac.uk/en/publications/81b6b315-c593-4fd0-a42b-8130ce2b2a63
https://doi.org/10.1016/j.ajhg.2021.04.025
https://eprints.whiterose.ac.uk/174965/

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Autoren: CF Wright NM Quaife L Ramos-Hernández et al.

Schlagwörter: developmental disorders, clinical genetic testing, non-coding region variants, 5' UTR variants

Relation: 10871/126958

Verfügbarkeit: https://figshare.com/articles/journal_contribution/Non-coding_region_variants_upstream_of_MEF2C_cause_severe_developmental_disorder_through_three_distinct_loss-of-function_mechanisms/29781767