Varaico: Literature-Extracted Genetic Variants

Gene:CSMD1
Variant:p.G2987R
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CSMD1

NM_033225.6:p.G2987R

Associated Papers

Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study.

Costanzo F et al.

International Journal of Environmental Research and Public Health, 2022

35162247 (PubMed )
Supplement: ijerph-19-01224-s001.zip › ijerph-1482551-supplementary.pdf

Current Status of Next-Generation Sequencing Approaches for Candidate Gene Discovery in Familial Parkinson´s Disease.

Pillay NS et al.

Frontiers in Genetics, 2022

Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease.

Ruiz-Martínez J et al.

Neurology. Genetics, 2017

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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."