Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.G342R
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NPHP1

NM_001128178.3:p.G342R

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts.

Sanford JR et al.

Genome Research, 2009

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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."