Varaico: Literature-Extracted Genetic Variants

Gene:APEX2
Variant:p.W208R
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APEX2

NM_014481.4:p.W208R

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
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."