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“Rab18 deficiency”. https://medlineplus.gov/genetics/condition/rab18-deficiency
Hozhabri H, Talebi M, Mehrjardi MYV, De Luca A, Dehghani M. Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. Am J Med Genet A. 2020 May;182(5):957-961. doi: 10.1002/ajmg.a.61543. Epub 2020 Mar 12. PMID: 32162791. https://pubmed.ncbi.nlm.nih.gov/32162791/
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