Varaico: Literature-Extracted Genetic Variants

Gene:BMAL2
Variant:p.L473S
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BMAL2

NM_020183.6:p.L473S

Associated Papers

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

Ben-Mahmoud A et al.

Research Square, 2023

Circadian-relevant genes are highly polymorphic in autism spectrum disorder patients.

Yang Z et al.

Brain & Development, 2016

[Genetic analysis and genes relating synaptic function for autism spectrum disorder].

Yamagata T et al.

No to Hattatsu = Brain and Development, 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."