Varaico: Literature-Extracted Genetic Variants

Gene:SYT2
Variant:p.S306L
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SYT2

NM_177402.5:p.S306L

Associated Papers

Exome sequencing and microarray identified a novel large exonic deletion in SYT2 gene in an ultra-rare case with recessive CMS type 7.

Kumar CPR et al.

Journal of Genetics, 2023

Calcium Sensors of Neurotransmitter Release.

Zhou Q

Advances in Neurobiology, 2023

Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy.

Mironovich O et al.

Genes, 2020

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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."