Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.V7fs
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SPATA7

NM_018418.5:p.V7fs

Associated Papers

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.

Hong YJ et al.

Annals of Laboratory Medicine, 2025

41457516 (PubMed )
Supplement: alm-46-2-200-supple.pdf

Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.

Surl D et al.

Jama Network Open, 2024

38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.

Yang E et al.

Investigative Ophthalmology & Visual Science, 2023

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

Xiao X et al.

Molecular Vision, 2019

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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."