Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.Q78P
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SDS

NM_006843.3:p.Q78P

Associated Papers

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Salpietro V et al.

American Journal of Human Genetics, 2019

30929742 (PubMed )
Supplement: mmc7.pdf

Needle core biopsies provide ample material for genomic and proteomic studies of kidney cancer: observations on DNA, RNA, protein extractions and VHL mutation detection.

Kurban G et al.

Pathology, Research and Practice, 2012

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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."