Varaico: Literature-Extracted Genetic Variants

Gene:TFAP4
Variant:p.Q222delFs
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TFAP4

NM_003223.3:p.Q222delFs

Associated Papers

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

Accogli A et al.

American Journal of Medical Genetics. Part A, 2018

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

Tüysüz B et al.

American Journal of Medical Genetics. Part A, 2014

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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."