Varaico: Literature-Extracted Genetic Variants

Gene:B9D2
Variant:p.S101R
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B9D2

NM_030578.4:p.S101R

Associated Papers

Ciliopathy-related B9 protein complex regulates ciliary axonemal microtubule posttranslational modifications and initiation of ciliogenesis.

He R et al.

The Journal of Clinical Investigation, 2026

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Meckel syndrome: Clinical and mutation profile in six fetuses.

Radhakrishnan P et al.

Clinical Genetics, 2019

Meckel-Gruber syndrome: A rare and lethal anomaly.

Kheir AE et al.

Sudanese Journal of Paediatrics, 2012

Disruption of a ciliary B9 protein complex causes Meckel syndrome.

Dowdle WE et al.

American Journal of Human Genetics, 2011

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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."