Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.
Rebecca FinneganMary O'ReganMáire WhiteGianpiero L CavalleriNorman DelantyKatherine A BensonMarie T GreallyPublished in: Molecular genetics & genomic medicine (2024)
The similarity of phenotype in the three males with the c.320A>G variant in ALG13, suggests a possible genotype-phenotype correlation.
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