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

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Bibliographic Details
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
Description
ISSN:0174304X
DOI:10.1055/s-0045-1812151