Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.N585D
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TCF4

NM_001083962.2:p.N585D

Associated Papers

Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia.

Sirp A et al.

The Journal of Biological Chemistry, 2021

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.

Marangi G et al.

American Journal of Medical Genetics. Part A, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."