Associated Papers
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Niceta M et al.
Bmc Pediatrics, 2020
32164589 (PubMed )
Supplement: 12887_2020_2019_MOESM1_ESM.pdf
Consequences of point mutations in melanoma-associated antigen 4 (MAGE-A4) protein: Insights from structural and biophysical studies.
Hagiwara Y et al.
Scientific Reports, 2016
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