Publications
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Author Title [ Year
] Filters: Keyword is Gene Expression and Author is Zaki, Maha S [Clear All Filters]
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun 10, 797 (2019).
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. Ann Neurol 80, 59-70 (2016).
