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A Novel Missense Mutation in Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)
by
Yasser Al-Sarraj BSC
,
Tawfeg Ben-Omran MD
,
Mohammed Tolefat MBBS
,
Yosra Bejaoui MSc
,
Hatem El-Shanti MD
,
Marios Kambouris PhD
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Journal of inborn errors of metabolism and screening
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