Varaico: Literature-Extracted Genetic Variants

Gene:VWA3B
Variant:p.F134delFs
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VWA3B

NM_144992.5:p.F134delFs

Associated Papers

Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.

Choi WJ et al.

Scientific Reports, 2024

38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S4

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
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