Varaico: Literature-Extracted Genetic Variants

Gene:NUP107
Variant:p.S168N
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NUP107

NM_020401.4:p.S168N

Associated Papers

Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.

Lim E et al.

Kidney International Reports, 2024

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Russell BE et al.

Molecular Genetics & Genomic Medicine, 2019

31493347 (PubMed )
Supplement: MGG3-7-e969-s001.pdf
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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."