Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.E2672*
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PCNT

NM_006031.6:p.E2672*

Associated Papers

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

Abdel-Salam GMH et al.

American Journal of Medical Genetics. Part A, 2020

A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II).

Dehghan Tezerjani M et al.

Frontiers in Pediatrics, 2020

Genomic and phenotypic delineation of congenital microcephaly.

Shaheen R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30214071 (PubMed )
Supplement: NIHMS1061370-supplement-1061370_Sup_MOESM2.xlsx › Sheet1
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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."