Varaico: Literature-Extracted Genetic Variants

Gene:CYP26C1
Variant:p.Q284fs
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CYP26C1

NM_183374.3:p.Q284fs

Associated Papers

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.

Beskorovainaya TS et al.

International Journal of Molecular Sciences, 2026

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).

Rivera-Munoz EA et al.

European Journal of Human Genetics : Ejhg, 2025

40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
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