Varaico: Literature-Extracted Genetic Variants

Gene:B9D1
Variant:p.R156P
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B9D1

NM_015681.6:p.R156P

Associated Papers

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Hammarsjö A et al.

Journal of Human Genetics, 2021

33875766 (PubMed )
Supplement: 10038_2021_925_MOESM3_ESM.pdf
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