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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALNT3

Variant:p.E172fs

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GALNT3

NM_004482.4:p.E172fs

hg38:chr2:165770187 TC>N

Associated Papers

A Large Deletion With a Large Impact: Homozygous 5,600 bp Deletion of the GALNT3 Gene Causing Hyperphosphatemic Tumoral Calcinosis.

Portmann JM et al.

Kidney Medicine, 2026

41675205 (PubMed )

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