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Especially inversion of SORD-SORD2P, causative for AR neuropathy, was a high impact event in patients where the 2nd variant was missing. #ESHG2025 https://t.co/JXM0e0jkDV
Especially inversion of SORD-SORD2P, causative for AR neuropathy, was a high impact event in patients where the 2nd variant was missing. #ESHG2025 https://t.co/JXM0e0jkDV
@MikeEberle @ahoischen thanks. Sounds good. here is the ref: https://t.co/J2smdUVshb
Open Access UCL Research: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes https://t.co/R4QsJV2NvJ
RT @interactivefly: Cortese, A., Zhu, Y., Rebelo, A. P.....Zhai, R. G. and Zuchner, S. (2020). Biallelic mutations in SORD cause a common a…