Varaico: Literature-Extracted Genetic Variants

Gene:DYNAP
Variant:p.D2E
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DYNAP

NM_173629.3:p.D2E

Associated Papers

A cyclic nucleotide-gated channel mutation associated with canine daylight blindness provides insight into a role for the S2 segment tri-Asp motif in channel biogenesis.

Tanaka N et al.

Plos One, 2014

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

Cartegni L et al.

Nature Genetics, 2002

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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."