An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP Article Swipe

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Annelise Y. Mah-Som , Jil Daw , Diana Huynh , Mengcheng Wu , Benjamin C. Creekmore , William Burns , Steven A. Skinner , Øystein L. Holla , Marie Falkenberg Smeland , Marc Planes , Kévin Uguen , Sylvia Redon , Tatjana Bierhals , Tasja Scholz , Jonas Denecke , Martin A. Mensah , Henrike L. Sczakiel , Heidelis Tichy , Sarah Verheyen , Jasmin Blatterer , Elisabeth Schreiner , Jenny Thies , Christina Lam , Christine G. Spaeth , Loren D.M. Peña , Keri Ramsey , Vinodh Narayanan , Laurie H. Seaver , Diana Rodriguez , Alexandra Afenjar , Lydie Bürglen , Edward B. Lee , Tsui‐Fen Chou , Conrad C. Weihl , Marwan Shinawi ·

YOU? · · 2023 · Open Access · · DOI: https://doi.org/10.1016/j.ajhg.2023.10.007

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Missense mutation Haploinsufficiency Frameshift mutation Exome sequencing Biology Genetics Loss function Neurodevelopmental disorder Hypotonia Phenotype Exome Phenocopy AAA proteins Disease Medicine Gene ATPase Pathology Biochemistry Enzyme

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Type: article
Language: en
Landing Page: https://doi.org/10.1016/j.ajhg.2023.10.007
OA Status: green
Cited By: 8
References: 72
Related Works: 10
OpenAlex ID: https://openalex.org/W4387966032

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OpenAlex ID: https://openalex.org/W4387966032

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DOI: https://doi.org/10.1016/j.ajhg.2023.10.007

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Title: An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

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Type: article

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Language: en

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Publication year: 2023

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Publication date: 2023-10-25

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Authors: Annelise Y. Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns, Steven A. Skinner, Øystein L. Holla, Marie Falkenberg Smeland, Marc Planes, Kévin Uguen, Sylvia Redon, Tatjana Bierhals, Tasja Scholz, Jonas Denecke, Martin A. Mensah, Henrike L. Sczakiel, Heidelis Tichy, Sarah Verheyen, Jasmin Blatterer, Elisabeth Schreiner, Jenny Thies, Christina Lam, Christine G. Spaeth, Loren D.M. Peña, Keri Ramsey, Vinodh Narayanan, Laurie H. Seaver, Diana Rodriguez, Alexandra Afenjar, Lydie Bürglen, Edward B. Lee, Tsui‐Fen Chou, Conrad C. Weihl, Marwan Shinawi

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Landing page: https://doi.org/10.1016/j.ajhg.2023.10.007

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OA status: green

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OA URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC10645565/pdf/main.pdf

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Concepts: Missense mutation, Haploinsufficiency, Frameshift mutation, Exome sequencing, Biology, Genetics, Loss function, Neurodevelopmental disorder, Hypotonia, Phenotype, Exome, Phenocopy, AAA proteins, Disease, Medicine, Gene, ATPase, Pathology, Biochemistry, Enzyme

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Cited by: 8

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Citations by year (recent): 2025: 4, 2024: 4

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References (count): 72

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Related works (count): 10

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