Varaico: Literature-Extracted Genetic Variants

Gene:BPNT2
Variant:p.V158insFs
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BPNT2

NM_017813.5:p.V158insFs

Associated Papers

Fetal phenotypes of Mendelian disorders: A descriptive study from India.

Saini N et al.

Prenatal Diagnosis, 2022

Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.

Venkatapuram VS et al.

American Journal of Medical Genetics. Part A, 2022

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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."