Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.T551Splc
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KANSL1

NM_015443.4:p.T551Splc

Associated Papers

Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.

Zhang H et al.

Medicine, 2024

Structural Genome Variations Related to Craniosynostosis.

Poot M

Molecular Syndromology, 2019

Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.

Zollino M et al.

Frontiers in Neuroscience, 2017

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