DNA polymerase alpha 1, catalytic subunit
OMIM: 312040, Gene2Phenotype
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POLA1 in Cerebral Palsy
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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POLA1 in Mendeliome
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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POLA1 in Systemic Autoinflammatory Disease_Periodic Fever
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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POLA1 in Intellectual disability syndromic and non-syndromic
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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POLA1 in Mackenzie's Mission_Reproductive Carrier Screening
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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POLA1 in Prepair 1000+
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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