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Autosomal dominant Shwachman–Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features. (22nd September 2021)
Record Type:
Journal Article
Title:
Autosomal dominant Shwachman–Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features. (22nd September 2021)
Main Title:
Autosomal dominant Shwachman–Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features