Varaico: Literature-Extracted Genetic Variants

Gene:PLCB4
Variant:p.R621L
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PLCB4

NM_000933.4:p.R621L

Associated Papers

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

Vegas N et al.

Human Mutation, 2022

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

Gordon CT et al.

Journal of Medical Genetics, 2013

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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."