Frameshift Variant in <i>AMPD2</i> in Cirneco dell'Etna Dogs with Retinopathy and Tremors.
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Full Title: Genes (Basel)
Abbreviation: Genes (Basel)
Country: Unknown
Publisher: Unknown
Language: N/A
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"data availability statement snp genotyping and whole-genome sequencing data have been made available at dryad ( https://datadryad org/ accessed on 20 december 2023) link https://datadryad org/stash/share/qtk7gyp9i3j468hdiwprkxdei8zzqbu9rxb_w5m0yec . supplementary materials the following supporting information can be downloaded at: https://www mdpi com/article/10 3390/genes15020238/s1 supplementary video s1: cons tremors manifestations supplementary file s1 dataset used for the population structure and phylogenetic analyses; file s2 whole-genome variants list; file s3 genetic variant and predicted impact; file s4 extended family tree of the cases; file s5 phylogenic trees based on reynold distances and isb. data availability statement snp genotyping and whole-genome sequencing data have been made available at dryad"
"Conflicts of Interest The authors declare no conflicts of interest."
"This study was supported by the Van Sloun Foundation and NEI/NIH grant EY-006855, and Foundation Fighting Blindness (FFB Large Animal Model Translational and Research Center—Award #RC-CMM-0720-0792-UPA)."
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Last Updated: Aug 05, 2025