Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.V377I
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SMAD3

NM_005902.4:p.V377I

Associated Papers

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › SMAD3

Adult-type granulosa cell tumor of the ovary: a FOXL2-centric disease.

Pilsworth JA et al.

The Journal of Pathology. Clinical Research, 2021

33428330 (PubMed )
Supplement: CJP2-7-243-s002.xlsx › Table_S2
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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."