Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.L276F
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COG1

NM_018714.3:p.L276F

Associated Papers

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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