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Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.
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- Human Genetics, 2016, v. 135, n. 10, p. 1191, doi. 10.1007/s00439-016-1722-2
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- Article
Clinical and biochemical features associated with BCS1L mutation.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 813, doi. 10.1007/s10545-012-9536-4
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- Publication type:
- Article
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal‐onset diabetes.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 694, doi. 10.1111/cge.13930
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- Article