Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD13
Variant:p.V121M
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KBTBD13

NM_001101362.3:p.V121M

Associated Papers

Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures.

Zhou W et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

39485938 (PubMed )
Supplement: table_s1-4_v18_jan-2024_zjae175.xlsx › Table_S2_variant_list

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.

Jarmula A et al.

Scientific Reports, 2019

31395899 (PubMed )
Supplement: 41598_2019_47849_MOESM1_ESM.pdf

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together
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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."