Varaico: Literature-Extracted Genetic Variants

Gene:NOP56
Variant:p.I121V
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NOP56

NM_006392.4:p.I121V

Associated Papers

A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Li Q et al.

Bmc Medical Genomics, 2022

35864542 (PubMed )
Supplement: 12920_2022_1315_MOESM2_ESM.xlsx › RawData

Discovering novel SNPs that are correlated with patient outcome in a Singaporean cancer patient cohort treated with gemcitabine-based chemotherapy.

Limviphuvadh V et al.

Bmc Cancer, 2018

29751792 (PubMed )
Supplement: 12885_2018_4471_MOESM1_ESM.zip › TableS2R2.xlsx › Table_S2

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Szeto CY et al.

Febs Open Bio, 2014

24490137 (PubMed )
Supplement: mmc5.xlsx › all_info

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s007.pdf
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