Varaico: Literature-Extracted Genetic Variants

Gene:SLC35C1
Variant:p.R147H
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SLC35C1

NM_018389.5:p.R147H

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

The driver landscape of sporadic chordoma.

Tarpey PS et al.

Nature Communications, 2017

29026114 (PubMed )
Supplement: 41467_2017_1026_MOESM5_ESM.xlsx › ST2
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