Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.D32H
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SDS

NM_006843.3:p.D32H

Associated Papers

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.

Asif M et al.

Hgg Advances, 2022

35571680 (PubMed )
Supplement: mmc1.pdf

Resting-State Structure and Gating Mechanism of a Voltage-Gated Sodium Channel.

Wisedchaisri G et al.

Cell, 2019

SAS-6 engineering reveals interdependence between cartwheel and microtubules in determining centriole architecture.

Hilbert M et al.

Nature Cell Biology, 2016

Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease.

Schluterman MK et al.

American Journal of Medical Genetics. Part A, 2007

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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."