Varaico: Literature-Extracted Genetic Variants

Gene:SPATS1
Variant:p.G140E
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SPATS1

NM_001372081.1:p.G140E

Associated Papers

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.

de Bruijn SE et al.

Journal of Medical Genetics, 2020

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › colo205_f40r3
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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."