Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.K239_S240Splc
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BBS2

NM_031885.5:p.K239_S240Splc

Associated Papers

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.

Cristofoli F et al.

Genes, 2023

37628650 (PubMed )
Supplement: genes-14-01600-s001.zip › genes-2481925-supplementary.xlsx › totale

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

Westemeyer M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32366966 (PubMed )
Supplement: 41436_2020_807_MOESM1_ESM.docx
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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."