Varaico: Literature-Extracted Genetic Variants

Gene:PIWIL3
Variant:p.D635_V636Splc
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PIWIL3

NM_001255975.1:p.D635_V636Splc

Associated Papers

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene.

Bacchelli E et al.

Journal of Clinical Medicine, 2019

Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy.

Bainbridge MN et al.

Bmc Medical Genetics, 2017

28253841 (PubMed )
Supplement: 12881_2017_385_MOESM1_ESM.pdf
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