Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.R6Q
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B3GALT6

NM_080605.4:p.R6Q

Associated Papers

Alternative start codon selection shapes mitochondrial function and rare human diseases.

Ly J et al.

Molecular Cell, 2025

41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMC5.xlsx › Missense_ISAs

Markedly discordant hypophosphatasia in a young girl.

Prakash V et al.

Bone, 2025

Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study.

Veatch OJ et al.

Bmc Medical Genomics, 2022

35918752 (PubMed )
Supplement: 12920_2022_1321_MOESM3_ESM.xlsx › Supplemental_Table_3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."