Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.A107T
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NPHS1

NM_004646.4:p.A107T

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

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.

Santín S et al.

Kidney International, 2009

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.

Philippe A et al.

Journal of the American Society of Nephrology : Jasn, 2008

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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."