Varaico: Literature-Extracted Genetic Variants

Gene:NOA1
Variant:p.P682S
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NOA1

NM_032313.4:p.P682S

Associated Papers

Sacral agenesis: a pilot whole exome sequencing and copy number study.

Porsch RM et al.

Bmc Medical Genetics, 2016

28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants

Crowdsourced direct-to-consumer genomic analysis of a family quartet.

Corpas M et al.

Bmc Genomics, 2015

26547235 (PubMed )
Supplement: 12864_2015_1973_MOESM3_ESM.xls › TableS2-57Variants

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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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."