An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.

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Title: An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.
Authors: Ordaz, Thania1, Sundaramurthi, Jagadish Chandrabose2, Arterbery, Adam S.2, Bagley, Anita M.3, Gargano, Michael A2, Bauer, Jeremy P4, Danis, Daniel5, Giampietro, Philip6,7, Raney, Ellen4, Rekerle, Lauren2, Shingle, Mallory3, Davids, Jon R.3, Robinson, Peter N.2,5, peter.robinson@jax.org
Source: American Journal of Medical Genetics. Part A; Feb2026, Vol. 200 Issue 2, p459-467, 9p
Database: Applied Science & Technology Source
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DbLabel: Applied Science & Technology Source
An: 192266161
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.
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      – Type: doi
        Value: 10.1002/ajmg.a.64263
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      – Code: eng
        Text: English
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        PageCount: 9
        StartPage: 459
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      – TitleFull: An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.
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            NameFull: Ordaz, Thania
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              M: 02
              Text: Feb2026
              Type: published
              Y: 2026
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