Variable skeletal phenotypes associated with biallelic variants in PRKG2.

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Pagnamenta, AT; Diaz-Gonzalez, F; Banos-Pinero, B; Ferla, MP; Toosi, MB; Calder, AD; Karimiani, EG; Doosti, M; Wainwright, A; Wordsworth, P; et al. Pagnamenta, AT; Diaz-Gonzalez, F; Banos-Pinero, B; Ferla, MP; Toosi, MB; Calder, AD; Karimiani, EG; Doosti, M; Wainwright, A; Wordsworth, P; Bailey, K; Ejeskär, K; Lester, T; Maroofian, R; Heath, KE; Tajsharghi, H; Shears, D; Taylor, JC; Genomics England Research Consortium (2022) Variable skeletal phenotypes associated with biallelic variants in PRKG2. J Med Genet, 59 (10). pp. 947-950. ISSN 1468-6244 https://doi.org/10.1136/jmedgenet-2021-108027
SGUL Authors: Karimiani, Ehsan Ghayoor

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Official URL: http://dx.doi.org/10.1136/jmedgenet-2021-108027

Item Type:

Article

Additional Information:

© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

Keywords:

codon, frameshift mutation, genomics, musculoskeletal diseases, nonsense, phenotype, Genetics & Heredity, 06 Biological Sciences, 11 Medical and Health Sciences

SGUL Research Institute / Research Centre:

Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)

Journal or Publication Title:

J Med Genet

ISSN:

1468-6244

Language:

eng

Dates:

Date	Event
26 September 2022	Published
15 November 2021	Published Online
8 October 2021	Accepted

Publisher License:

Creative Commons: Attribution 4.0

Projects:

Project ID	Funder	Funder ID
203141/Z/16/Z	Wellcome Trust	http://dx.doi.org/10.13039/100004440
608473	Seventh Framework Programme	http://dx.doi.org/10.13039/501100004963
SAF2017-84646-R	MINECO	UNSPECIFIED