Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2B
Variant:p.Q180_S181Splc
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TFAP2B

NM_003221.4:p.Q180_S181Splc

Associated Papers

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.

Edward HL et al.

American Journal of Medical Genetics. Part A, 2019

Mutations of TFAP2B in congenital heart disease patients in Mysore, South India.

Lingaiah K et al.

The Indian Journal of Medical Research, 2011

Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus.

Khetyar M et al.

Genetic Testing, 2008

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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."