Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.R182C
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PCNT

NM_006031.6:p.R182C

Associated Papers

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.

Zhang W et al.

Frontiers in Pediatrics, 2022

36507129 (PubMed )
Supplement: Table1.xlsx › Supplemental_Table

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.

Tan M et al.

International Journal of Molecular Medicine, 2014

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