Homozygous p.Lys416Glu variant in <i>TRNT1</i> expands the SIFD syndrome phenotype to include peripheral nervous system involvement

Candayan A., Yildiz E. P., Ramos L. L. P., Jordanova A.

58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, Italy, 24 - 27 May 2025, vol.33, pp.327, (Summary Text)

• Publication Type: Conference Paper / Summary Text
• Volume: 33
• City: Milan
• Country: Italy
• Page Numbers: pp.327
• Istanbul University Affiliated: No