Varaico: Literature-Extracted Genetic Variants

Gene:BBS9
Variant:p.S88L
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BBS9

NM_198428.3:p.S88L

Associated Papers

Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9.

Deitch I et al.

Current Issues in Molecular Biology, 2024

Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity.

Bonetti G et al.

Journal of Clinical Medicine, 2022

36556146 (PubMed )
Supplement: jcm-11-07531-s001.zip › jcm-2023798-supplementary.pdf

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Maltese PE et al.

Frontiers in Genetics, 2022

35836572 (PubMed )
Supplement: Table1.xlsx › Table_S1_Africa

Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.

Aref-Eshghi E et al.

Journal of Human Genetics, 2021

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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."