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Results 1 - 4 of 4
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EC Number Protein Variants Commentary Reference
Show all pathways known for 2.4.1.134Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.134A108G naturally occuring enzyme mutation 735420
Show all pathways known for 2.4.1.134Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.134D207H naturally occuring enzyme mutation 735420
Show all pathways known for 2.4.1.134Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.134G217S naturally occuring enzyme mutation 735420
Show all pathways known for 2.4.1.134Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.134more homozygosity mapping and candidate gene sequence analysis in three independent families identified biallelic gene B3GALT6 mutations, including homozygous missense mutations in family 1 (c.619G>C [p.Asp207His]) and family 3 (c.649G>A [p.Gly217Ser]) and compound heterozygous mutations in family 2 (c.323_344del [p.Ala108Glyfs*163], c.619G>C [p.Asp207His]), phenotypes overview 735420
Results 1 - 4 of 4
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