Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R1
Variant:p.L249P
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CDK5R1

NM_003885.3:p.L249P

Associated Papers

Genotype-phenotype analysis of the branchio-oculo-facial syndrome.

Milunsky JM et al.

American Journal of Medical Genetics. Part A, 2011

Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

Stoetzel C et al.

American Journal of Medical Genetics. Part A, 2009

TFAP2A mutations result in branchio-oculo-facial syndrome.

Milunsky JM et al.

American Journal of Human Genetics, 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."