Varaico: Literature-Extracted Genetic Variants

Gene:NBPF14
Variant:p.S785A
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NBPF14

NM_001395631.1:p.S785A

Associated Papers

Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound.

Chen CP et al.

Taiwanese Journal of Obstetrics & Gynecology, 2019

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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."