RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.

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Title: RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.
Authors: Monfrini, Edoardo1,2 (AUTHOR), Rinchetti, Paola3 (AUTHOR), Anheim, Mathieu4,5,6 (AUTHOR), Klingseisen, Anna7 (AUTHOR), Lagha‐Boukbiza, Ouhaid8 (AUTHOR), Cen, Zhidong9 (AUTHOR), Yang, Dehao9 (AUTHOR), Chen, Xinhui9 (AUTHOR), Maroofian, Reza10 (AUTHOR), Houlden, Henry10 (AUTHOR), Cappelletti, Gioia3,11 (AUTHOR), Richard, Anne‐Claire12 (AUTHOR), Quenez, Olivier12 (AUTHOR), Toro, Camilo13 (AUTHOR), Frucht, Steven J.14 (AUTHOR), Lotti, Francesco3,15 (AUTHOR), Luo, Wei9 (AUTHOR), Hunt, David7,16 (AUTHOR), Nicolas, Gael12 (AUTHOR), Riboldi, Giulietta M.14 (AUTHOR) giulietta.riboldi@nyulangone.org
Source: Movement Disorders. Dec2025, Vol. 40 Issue 12, p2792-2803. 12p.
Database: Academic Search Ultimate
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  Data: RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.
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  Data: <searchLink fieldCode="JN" term="%22Movement+Disorders%22">Movement Disorders</searchLink>. Dec2025, Vol. 40 Issue 12, p2792-2803. 12p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=190305380
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        Value: 10.1002/mds.70058
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        Text: English
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              Text: Dec2025
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