Biallelic Variants Indap3result in Reduced Assembly of the Mitoribosomal Small Subunit with Altered Intrinsic and Extrinsic Apoptosis and a Perrault Syndrome-Spectrum Phenotype Thomas B Smith , Robert Kopajtich , Leigh A M Demain , Alessandro Rea , Huw B Thomas , Manuel Schiff , Christian Beetz , Shelagh Joss , Gerard S Conway , Anju Shukla , Mayuri Yeole , Periyasamy Radhakrishnan , Hatem Azzouz , Amel Ben Chehida , Monique Elmaleh-Bergès , Ruth I C Glasgow , Kyle Thompson , Monika Oláhová , Langping He , Emma M Jenkinson , Amir Jahic , Inna A Belyantseva , Melanie Barzik , Jill E Urquhart , James O' Sullivan , Simon G Williams , Sanjeev S Bhaskar , Samantha Carrera , Alexander J M Blakes , Siddharth Banka , Wyatt W Yue , Jamie M Ellingford , Henry Houlden , DDD Study , Kevin J Munro , Thomas B Friedman , Robert W Taylor , Holger Prokisch , Raymond T O'Keefe , William G Newman medRxiv the preprint server for health sciences(2024)
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