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Diagnostic exome identifies a novel PRKG2 mutation in a pro..:
Kamdar, Payal
;
Geetha, Thenral S.
;
Palocaren, Thomas
...
Clinical Genetics. 105 (2023) 4 - p. 453-454 , 2023
Link:
https://doi.org/10.1111/cge.14465
RT Journal T1
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.14465&Exemplar=1&LAN=DE A1 Kamdar, Payal A1 Geetha, Thenral S. A1 Palocaren, Thomas A1 Kandagaddala, Madhavi A1 Chinniah, Praveen Kumar A1 Murugan, Sakthivel A1 Vedam, Ramprasad A1 Danda, Sumita PB Wiley YR 2023 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 105 IS 4 SP 453 OP 454 LK http://dx.doi.org/https://doi.org/10.1111/cge.14465 DO https://doi.org/10.1111/cge.14465 SF ELIB - SuUB Bremen
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