Frameshift Variant in <i>AMPD2</i> in Cirneco dell'Etna Dogs with Retinopathy and Tremors.

Publication Year: 2024

DOI:
10.3390/genes15020238

PMCID:
PMC10887799

PMID:
38397227

Journal Information

Full Title: Genes (Basel)

Abbreviation: Genes (Basel)

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
4/6
66.7% Transparent
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Evidence found in paper:

"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"

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Evidence found in paper:

"Conflicts of Interest The authors declare no conflicts of interest."

Evidence found in paper:

"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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Open Access
Paper is freely available to read
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Tool: rtransparent

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Last Updated: Aug 05, 2025