Varaico: Literature-Extracted Genetic Variants

Gene:DCDC2
Variant:p.G182R
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DCDC2

NM_016356.5:p.G182R

Associated Papers

DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases.

Lipiński P et al.

Diagnostics (basel, Switzerland), 2023

Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.

Azabdaftari A et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2023

Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children.

Wei X et al.

Frontiers in Pediatrics, 2023

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