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A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.

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Title: A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.
Authors: Parra, Alejandro1,2,3,4, alejandro.parra.externo@salud.madrid.org, Cazalla, Mario1,2,3,4, Jimenez‐Estrada, Juan A.2, Silván, Cristina2, Miranda‐Alcaraz, Lucía1,2,3,4, Gallego‐Zazo, Natalia1,2,3, Mora‐Gómez, Mónica1,2,3,4, Rodríguez‐Canó, Manuel1,2,3,4, Arias, Pedro1,2,3, Rodríguez‐Antolín, Carlos2, Nevado, Julián1,2,3, Ruiz Pérez, Víctor Luis1,3,5, Tenorio‐Castano, Jair1,2,3, Lapunzina, Pablo1,2,3, plapunzina@ciberer.es
Source: American Journal of Medical Genetics. Part A; Aug2025, Vol. 197 Issue 8, p1-4, 4p
Database: Applied Science & Technology Source
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  Availability: 0
Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 186371149
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Parra%2C+Alejandro%22">Parra, Alejandro</searchLink><relatesTo>1,2,3,4</relatesTo>, <i>alejandro.parra.externo@salud.madrid.org</i><br /><searchLink fieldCode="AU" term="%22Cazalla%2C+Mario%22">Cazalla, Mario</searchLink><relatesTo>1,2,3,4</relatesTo><br /><searchLink fieldCode="AU" term="%22Jimenez‐Estrada%2C+Juan+A%2E%22">Jimenez‐Estrada, Juan A.</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Silván%2C+Cristina%22">Silván, Cristina</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Miranda‐Alcaraz%2C+Lucía%22">Miranda‐Alcaraz, Lucía</searchLink><relatesTo>1,2,3,4</relatesTo><br /><searchLink fieldCode="AU" term="%22Gallego‐Zazo%2C+Natalia%22">Gallego‐Zazo, Natalia</searchLink><relatesTo>1,2,3</relatesTo><br /><searchLink fieldCode="AU" term="%22Mora‐Gómez%2C+Mónica%22">Mora‐Gómez, Mónica</searchLink><relatesTo>1,2,3,4</relatesTo><br /><searchLink fieldCode="AU" term="%22Rodríguez‐Canó%2C+Manuel%22">Rodríguez‐Canó, Manuel</searchLink><relatesTo>1,2,3,4</relatesTo><br /><searchLink fieldCode="AU" term="%22Arias%2C+Pedro%22">Arias, Pedro</searchLink><relatesTo>1,2,3</relatesTo><br /><searchLink fieldCode="AU" term="%22Rodríguez‐Antolín%2C+Carlos%22">Rodríguez‐Antolín, Carlos</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Nevado%2C+Julián%22">Nevado, Julián</searchLink><relatesTo>1,2,3</relatesTo><br /><searchLink fieldCode="AU" term="%22Ruiz+Pérez%2C+Víctor+Luis%22">Ruiz Pérez, Víctor Luis</searchLink><relatesTo>1,3,5</relatesTo><br /><searchLink fieldCode="AU" term="%22Tenorio‐Castano%2C+Jair%22">Tenorio‐Castano, Jair</searchLink><relatesTo>1,2,3</relatesTo><br /><searchLink fieldCode="AU" term="%22Lapunzina%2C+Pablo%22">Lapunzina, Pablo</searchLink><relatesTo>1,2,3</relatesTo>, <i>plapunzina@ciberer.es</i>
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  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; Aug2025, Vol. 197 Issue 8, p1-4, 4p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=186371149
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        Value: 10.1002/ajmg.a.64074
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      – Code: eng
        Text: English
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        PageCount: 4
        StartPage: 1
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      – TitleFull: A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.
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              M: 08
              Text: Aug2025
              Type: published
              Y: 2025
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              Value: 197
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            – TitleFull: American Journal of Medical Genetics. Part A
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