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                                       Details for article 3 of 16 found articles
 
 
  Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
 
 
Title: Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
Author: Harkness, J. Robert
Thomas, Huw B.
Urquhart, Jill E.
Jamieson, Peter
O'Keefe, Raymond T.
Kingston, Helen M.
Deshpande, Charulata
Newman, William G.
Appeared in: European journal of medical genetics
Paging: Volume 67 () nr. C pages p.
Year: 2024
Contents:
Publisher: The Authors
Source file: Elektronische Wetenschappelijke Tijdschriften
 
 

                             Details for article 3 of 16 found articles
 
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