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Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation.
- Published in:
- Journal of Genetic Counseling, 2024, v. 33, n. 1, p. 151, doi. 10.1002/jgc4.1853
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- Article
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
- Published in:
- Human Genetics, 2024, v. 143, n. 3, p. 437, doi. 10.1007/s00439-024-02656-3
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- Article
Nonlethal presentations of CYP26B1‐related skeletal anomalies and multiple synostoses syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2766, doi. 10.1002/ajmg.a.62387
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- Article