Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.Y367C
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SPATA7

NM_018418.5:p.Y367C

Associated Papers

The spermatogenesis-associated protein-7 (SPATA7) gene - an overview.

Kannabiran C

Ophthalmic Genetics, 2020

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa.

Takahashi VKL et al.

Orphanet Journal of Rare Diseases, 2019

Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.

Jauregui R et al.

Scientific Reports, 2019

31341231 (PubMed )
Supplement: 41598_2019_47251_MOESM1_ESM.pdf

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

Xiao X et al.

Molecular Vision, 2019

Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

Sengillo JD et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2018

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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."