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Homozygous intronic variants in TPM2 cause recessively inhe..:
Schirwani, Schaida
;
Sarkozy, Anna
;
Phadke, Rahul
...
Neuromuscular Disorders. 31 (2021) 4 - p. 359-366 , 2021
Link:
https://doi.org/10.1016/j.nmd.2020.09.033
RT Journal T1
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.nmd.2020.09.033&Exemplar=1&LAN=DE A1 Schirwani, Schaida A1 Sarkozy, Anna A1 Phadke, Rahul A1 Childs, Anne-Marie A1 Mein, Rachael A1 Ismail, Azzam A1 Smith, Audrey A1 Muntoni, Francesco A1 Hobson, Emma A1 Pysden, Karen PB Elsevier BV YR 2021 SN 0960-8966 JF Neuromuscular Disorders VO 31 IS 4 SP 359 OP 366 LK http://dx.doi.org/https://doi.org/10.1016/j.nmd.2020.09.033 DO https://doi.org/10.1016/j.nmd.2020.09.033 SF ELIB - SuUB Bremen
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