Varaico: Literature-Extracted Genetic Variants

Gene:BBS7
Variant:p.N335fs
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BBS7

NM_176824.3:p.N335fs

Associated Papers

Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.

Cheng SSW et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025

40755077 (PubMed )
Supplement: hkmj2412298-supplementary.pdf

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China.

Xin-Yi Z et al.

Frontiers in Genetics, 2023

Unmasking a recessive allele by a deletion: Early prenatal diagnosis of Bardet-Biedl syndrome in a Chinese family.

Jing XY et al.

Congenital Anomalies, 2021

Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort.

Meng X et al.

Frontiers in Cell and Developmental Biology, 2021

Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.

Tao T et al.

International Ophthalmology, 2020

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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."