Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.P307R
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SOX9

NM_000346.4:p.P307R

Associated Papers

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.

Rjiba K et al.

Reproductive Biology and Endocrinology : Rb&e, 2023

Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.

Palsgrove DN et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

29973652 (PubMed )
Supplement: NIHMS972465-supplement-1.xlsx › CASE_9
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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."