Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.V74M
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SPATA7

NM_018418.5:p.V74M

Associated Papers

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS36

Rare compound heterozygous missense SPATA7 variations and risk of schizophrenia; whole-exome sequencing in a consanguineous family with affected siblings, follow-up sequencing and a case-control study.

Igeta H et al.

Neuropsychiatric Disease and Treatment, 2019

Next-generation genetic testing for retinitis pigmentosa.

Neveling K et al.

Human Mutation, 2012

22334370 (PubMed )
Supplement: humu0033-0963-sd1.pdf

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

Mackay DS et al.

Investigative Ophthalmology & Visual Science, 2011

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

Li L et al.

Plos One, 2011

21602930 (PubMed )
Supplement: pone.0019458.s005.xls › Sheet1

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault I et al.

Human Mutation, 2010

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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."