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Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2116, doi. 10.1002/humu.24478
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- Article
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
- Published in:
- Human Mutation, 2021, v. 42, n. 8, p. 1005, doi. 10.1002/humu.24235
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- Publication type:
- Article