Varaico: Literature-Extracted Genetic Variants

Gene:OBSCN
Variant:p.R256C
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OBSCN

NM_001386125.1:p.R256C

Associated Papers

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

Vulto-van Silfhout AT et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

40590205 (PubMed )
Supplement: NIHMS2119735-supplement-supplement.docx

Contribution of allelic imbalance to colorectal cancer.

Palin K et al.

Nature Communications, 2018

30202008 (PubMed )
Supplement: 41467_2018_6132_MOESM11_ESM.xlsx › Somatic_mutations_in_234_MSS_CR
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