Functional and cellular localization diversity associated with Fukutin‐related protein patient genetic variants
Author:
Affiliation:
1. INTEGRARE Research Unit, UMR951, GenethonINSERM, Univ. Paris‐Saclay Evry F‐91002 France
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23827
Reference51 articles.
1. A method and server for predicting damaging missense mutations
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4. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome
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