Varaico: Literature-Extracted Genetic Variants

Gene:CEP164
Variant:p.R416C
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CEP164

NM_014956.5:p.R416C

Associated Papers

Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.

Alaei MR et al.

Iranian Biomedical Journal, 2016

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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."