Varaico: Literature-Extracted Genetic Variants

Gene:B4GALT7
Variant:p.Y199*
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B4GALT7

NM_007255.3:p.Y199*

Associated Papers

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Nagaoka S et al.

Human Genome Variation, 2021

33452237 (PubMed )
Supplement: 41439_2020_133_MOESM1_ESM.xlsx › Sheet1
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