Varaico: Literature-Extracted Genetic Variants

Gene:CXorf49B
Variant:p.L333P
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CXorf49B

NM_001145139.2:p.L333P

Associated Papers

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.

Cai X et al.

Scientific Reports, 2016

27174565 (PubMed )
Supplement: srep25834-s1.doc
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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."