Associated Papers
rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population.
Clark JSC et al.
Scientific Reports, 2023
37816715 (PubMed )
Supplement: 41598_2023_43323_MOESM1_ESM.xlsx › Sheet1
Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.
Albarry MA et al.
Plos One, 2021
33571247 (PubMed )
Supplement: pone.0246607.s001.xlsx › Sheet1
Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.
Chu G et al.
Cancer Medicine, 2019
30977266 (PubMed )
Supplement: CAM4-8-1996-s001.pdf
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting.
Münz M et al.
Genome Medicine, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
Lim ET et al.
Neuron, 2013
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