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Figure 4 | BMC Medical Genetics

Figure 4

From: Previously described sequence variant in CDK5RAP2gene in a Pakistani family with autosomal recessive primary microcephaly

Figure 4

A schematic representation of the nucleotide sequence (238–252) of exon 4 of CDK5RAP2 gene. An arrow indicates the nucleotide number 246 which is substituted by A in the patient DNA resulting in the mutation Y82X. The numbers above the nucleotide sequence represent the nucleotide numbers in the gene. The numbers below the single letter code for amino acids represent the amino acid position in the protein.

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BMC Medical Genetics

ISSN: 1471-2350

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