Varaico: Literature-Extracted Genetic Variants

Gene:NPAT
Variant:p.N1216D
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NPAT

NM_002519.3:p.N1216D

Associated Papers

Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis.

Kishore A et al.

Human Genetics, 2018

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_OtherCG

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1535.548
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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."