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Biallelic Variants in TRAPPC11 Cause a Neurodevelopmental Disorder with Achalasia and Alacrima.

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Title: Biallelic Variants in TRAPPC11 Cause a Neurodevelopmental Disorder with Achalasia and Alacrima.
Authors: Duran, P. A. Nunez1 (AUTHOR), Averdunk, L.1 (AUTHOR), Brugger, M.2 (AUTHOR), Brunet, T.2 (AUTHOR), Mayatepek, E.1 (AUTHOR), Öztürk, M.3,4 (AUTHOR), Ruck, T.5,6 (AUTHOR), Roos, A.7 (AUTHOR), Koehler, K.8 (AUTHOR), Distelmaier, F.1 (AUTHOR)
Source: Neuropediatrics. 2025 Supplement 1, Vol. 56, pS1-S24. 24p.
Database: Academic Search Ultimate
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DbLabel: Academic Search Ultimate
An: 188299379
AccessLevel: 2
PubType: Academic Journal
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PreciseRelevancyScore: 0
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  Data: Biallelic Variants in TRAPPC11 Cause a Neurodevelopmental Disorder with Achalasia and Alacrima.
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  Data: <searchLink fieldCode="AR" term="%22Duran%2C+P%2E+A%2E+Nunez%22">Duran, P. A. Nunez</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Averdunk%2C+L%2E%22">Averdunk, L.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Brugger%2C+M%2E%22">Brugger, M.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Brunet%2C+T%2E%22">Brunet, T.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mayatepek%2C+E%2E%22">Mayatepek, E.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Öztürk%2C+M%2E%22">Öztürk, M.</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ruck%2C+T%2E%22">Ruck, T.</searchLink><relatesTo>5,6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Roos%2C+A%2E%22">Roos, A.</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Koehler%2C+K%2E%22">Koehler, K.</searchLink><relatesTo>8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Distelmaier%2C+F%2E%22">Distelmaier, F.</searchLink><relatesTo>1</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neuropediatrics%22">Neuropediatrics</searchLink>. 2025 Supplement 1, Vol. 56, pS1-S24. 24p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=188299379
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        Value: 10.1055/s-0045-1812151
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      – TitleFull: Biallelic Variants in TRAPPC11 Cause a Neurodevelopmental Disorder with Achalasia and Alacrima.
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              Text: 2025 Supplement 1
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              Y: 2025
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