Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.G1340_G1341del1
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HCFC1

NM_005334.3:p.G1340_G1341del1

Associated Papers

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.

Fecarotta S et al.

Orphanet Journal of Rare Diseases, 2025

39856690 (PubMed )
Supplement: 13023_2025_3546_MOESM3_ESM.pdf
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