Varaico: Literature-Extracted Genetic Variants

Gene:SPOCK1
Variant:p.D80V
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SPOCK1

NM_004598.4:p.D80V

Associated Papers

Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins.

Kaur S et al.

Journal of Cell Communication and Signaling, 2021

The Central Region of Testican-2 Forms a Compact Core and Promotes Cell Migration.

Krajnc A et al.

International Journal of Molecular Sciences, 2020

Proteoglycan form and function: A comprehensive nomenclature of proteoglycans.

Iozzo RV et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2015

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.

Dhamija R et al.

European Journal of Medical Genetics, 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."