Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.V7I
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SPATA7

NM_018418.5:p.V7I

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.

Xiao X et al.

Molecular Vision, 2019

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Soens ZT et al.

Human Mutation, 2017

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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."