Varaico: Literature-Extracted Genetic Variants

Gene:SP2
Variant:p.L269P
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SP2

NM_003110.6:p.L269P

Associated Papers

A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report.

Min J et al.

Frontiers in Pediatrics, 2020

32766183 (PubMed )
Supplement: Table_5.XLSX › Sheet1

Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

Reiber J et al.

American Journal of Medical Genetics. Part A, 2010

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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."