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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
- Published in:
- Nature Genetics, 2014, v. 46, n. 11, p. 1239, doi. 10.1038/ng.3103
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- Article
Stimulators of the soluble guanylyl cyclase: promising functional insights from rare coding atherosclerosis-related GUCY1A3 variants.
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- Basic Research in Cardiology, 2016, v. 111, n. 4, p. 1, doi. 10.1007/s00395-016-0570-5
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- Publication type:
- Article
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
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- Human Genetics, 2021, v. 140, n. 8, p. 1157, doi. 10.1007/s00439-021-02285-0
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- Publication type:
- Article
Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays.
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- Cancers, 2023, v. 15, n. 20, p. 5024, doi. 10.3390/cancers15205024
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- Article