Varaico: Literature-Extracted Genetic Variants

Gene:TLL1
Variant:p.G627D
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TLL1

NM_012464.5:p.G627D

Associated Papers

First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa.

Khazanchi R et al.

Clinical Dysmorphology, 2020

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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."