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Identification and functional evaluation of GRIA1 missense and truncation variants in patients with intellectual disability: an emerging neurodevelopmental phenotype

Identification and functional evaluation of GRIA1 missense and truncation variants in patients with intellectual disability: an emerging neurodevelopmental phenotype
Identification and functional evaluation of GRIA1 missense and truncation variants in patients with intellectual disability: an emerging neurodevelopmental phenotype
0002-9297
1217-1241
Ismail, Vardha
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Zachariassen, Linda
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Godwin, Annie
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Sahakian, Mane
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Ellard, Sian
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Stals, Karen L
145b7d51-cea5-485d-9f83-614ca062efb6
Tatton Brown, Kate
1ebebca5-adff-4df8-af65-1f16365eb34b
Foulds, Nicola
5e153e9f-caae-45f5-b6f0-943bd567558e
Wheway, Gabrielle
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Parker, Matthew O.
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Lyngby, Signe M
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Pedersen, Miriam G
d11b517b-e902-4aa0-87ca-3f8db3a1531e
Desir, Julie
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Bayat, Allan
cfb50f98-bac3-450f-9daf-affa38112705
Lusgaard, Maria
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Guille, Matthew
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Kristensen, Anders S
a04ef18d-97a8-417c-93d2-9fe8f0862311
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Ismail, Vardha
e10a39c7-34e9-482b-975f-514c7b4309b4
Zachariassen, Linda
976fdf71-68c8-4dff-9c6b-fcf3ff1da091
Godwin, Annie
90ba88ea-4a7c-44f4-bf70-9015c0d33194
Sahakian, Mane
8fddfc1a-feb8-4f93-89f3-14206a841fe0
Ellard, Sian
6c9b0ede-8980-4602-b063-444b165baa09
Stals, Karen L
145b7d51-cea5-485d-9f83-614ca062efb6
Tatton Brown, Kate
1ebebca5-adff-4df8-af65-1f16365eb34b
Foulds, Nicola
5e153e9f-caae-45f5-b6f0-943bd567558e
Wheway, Gabrielle
2e547e5d-b921-4243-a071-2208fd4cc090
Parker, Matthew O.
3acfa573-c8d6-400b-91e6-7b04f5275402
Lyngby, Signe M
131736ce-4b9c-4035-bf47-f95a0c2efd96
Pedersen, Miriam G
d11b517b-e902-4aa0-87ca-3f8db3a1531e
Desir, Julie
8844e390-7354-4149-908e-f1e07790e9ec
Bayat, Allan
cfb50f98-bac3-450f-9daf-affa38112705
Lusgaard, Maria
30c79777-4347-4630-9f00-cfcc6c568c67
Guille, Matthew
dfefb828-7c5b-4529-8df6-d7a10d8d5b67
Kristensen, Anders S
a04ef18d-97a8-417c-93d2-9fe8f0862311
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91

Ismail, Vardha, Zachariassen, Linda, Godwin, Annie, Sahakian, Mane, Ellard, Sian, Stals, Karen L, Tatton Brown, Kate, Foulds, Nicola, Wheway, Gabrielle, Parker, Matthew O., Lyngby, Signe M, Pedersen, Miriam G, Desir, Julie, Bayat, Allan, Lusgaard, Maria, Guille, Matthew, Kristensen, Anders S and Baralle, Diana (2022) Identification and functional evaluation of GRIA1 missense and truncation variants in patients with intellectual disability: an emerging neurodevelopmental phenotype. The American Journal of Human Genetics, 109 (7), 1217-1241.

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More information

Accepted/In Press date: 13 April 2022
Published date: 7 July 2022
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Identifiers

Local EPrints ID: 456994
URI: http://eprints.soton.ac.uk/id/eprint/456994
ISSN: 0002-9297
PURE UUID: 1d754de5-3278-4252-be0f-790b52c0c4bd
ORCID for Gabrielle Wheway: ORCID iD orcid.org/0000-0002-0494-0783
ORCID for Diana Baralle: ORCID iD orcid.org/0000-0003-3217-4833

Catalogue record

Date deposited: 19 May 2022 16:34
Last modified: 17 Mar 2024 07:16

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Contributors

Author: Vardha Ismail
Author: Linda Zachariassen
Author: Annie Godwin
Author: Mane Sahakian
Author: Sian Ellard
Author: Karen L Stals
Author: Kate Tatton Brown
Author: Nicola Foulds
Author: Gabrielle Wheway ORCID iD
Author: Matthew O. Parker
Author: Signe M Lyngby
Author: Miriam G Pedersen
Author: Julie Desir
Author: Allan Bayat
Author: Maria Lusgaard
Author: Matthew Guille
Author: Anders S Kristensen
Author: Diana Baralle ORCID iD

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