Genes, Recessive

Displaying 1 - 3 of 3CSV
Dong, W., Jin, S. C., Sierant, M. C., Lu, Z., Li, B., Lu, Q., Morton, S. U., Zhang, J., López-Giráldez, F., Nelson-Williams, C., Knight, J. R., Zhao, H., Cao, J., Mane, S., Gruber, P. J., Lek, M., Goldmuntz, E., Deanfield, J., Giardini, A., … Brueckner, M. (2025). Recessive genetic contribution to congenital heart disease in 5,424 probands. Proceedings of the National Academy of Sciences, 122(10). https://doi.org/10.1073/pnas.2419992122
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Andrade Azevedo de Vasconcelos, A., Kyun Oh, J., Guan, B., Torres, V. L. L., Lynch Gaete, M. I., & Lima de Carvalho, J. R. (2025). A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia. Ophthalmic Genetics, 1–5. https://doi.org/10.1080/13816810.2024.2447499
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Bharadwaj, T., Acharya, A., Khan, F. U., Khan, S., Ullah, I., Schrauwen, I., Ahmad, W., & Leal, S. M. (2024). THBS1 is a new autosomal recessive non-syndromic hearing impairment gene. BMC Medical Genomics, 17(1). https://doi.org/10.1186/s12920-024-02060-w
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