Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S1746_W1752del0
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PKD1

NM_001009944.3:p.S1746_W1752del0

Associated Papers

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies.

Jin P et al.

Bmc Pregnancy and Childbirth, 2024

First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Reyna-Fabián ME et al.

Scientific Reports, 2020

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

Rosset C et al.

Plos One, 2017

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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."