Varaico: Literature-Extracted Genetic Variants

Gene:CNTRL
Variant:p.V230fs
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CNTRL

NM_007018.6:p.V230fs

Associated Papers

Deregulation of Neuro-Developmental Genes and Primary Cilium Cytoskeleton Anomalies in iPSC Retinal Sheets from Human Syndromic Ciliopathies.

Barabino A et al.

Stem Cell Reports, 2020

32160518 (PubMed )
Supplement: mmc2.pdf
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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."