Varaico: Literature-Extracted Genetic Variants

Gene:CIMAP3
Variant:p.R80K
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CIMAP3

NM_181643.6:p.R80K

Associated Papers

The potential of deep learning on the discovery of new genes implicated in differences of sex development.

von der Decken I et al.

Computational and Structural Biotechnology Journal, 2026

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.

Antony D et al.

Frontiers in Genetics, 2022

Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.

Chiu C et al.

Familial Cancer, 2019

Mechanism of ciliary disassembly.

Liang Y et al.

Cellular and Molecular Life Sciences : Cmls, 2016

Pitchfork and Gprasp2 Target Smoothened to the Primary Cilium for Hedgehog Pathway Activation.

Jung B et al.

Plos One, 2016

The role of the cilium in normal and abnormal cell cycles: emphasis on renal cystic pathologies.

Pan J et al.

Cellular and Molecular Life Sciences : Cmls, 2013

Pitchfork regulates primary cilia disassembly and left-right asymmetry.

Kinzel D et al.

Developmental Cell, 2010

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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."