Varaico: Literature-Extracted Genetic Variants

Gene:CDT1
Variant:p.E452Q
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CDT1

NM_030928.4:p.E452Q

Associated Papers

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.

Parry DA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33033404 (PubMed )
Supplement: 41436_2020_980_MOESM1_ESM.pdf
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