Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT3
Variant:p.P108S
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NMNAT3

NM_001401600.1:p.P108S

Associated Papers

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Zhou Z et al.

Bmc Medical Genetics, 2018

30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Griswold AJ et al.

Molecular Autism, 2015

26185613 (PubMed )
Supplement: 13229_2015_34_MOESM3_ESM.xlsx › Sheet1
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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."