Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1
Variant:p.R486C
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CAPN1

NM_005186.4:p.R486C

Associated Papers

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Brankovic M et al.

Neurogenetics, 2024

[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].

Lin SZ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.

Wei Q et al.

Translational Neurodegeneration, 2019

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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."