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Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal‐onset diabetes.
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- Clinical Genetics, 2021, v. 99, n. 5, p. 694, doi. 10.1111/cge.13930
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- Article
Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.
- Published in:
- Journal of Nephrology (JNonline), 2020, v. 33, n. 4, p. 763, doi. 10.1007/s40620-019-00692-1
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- Publication type:
- Article