Varaico: Literature-Extracted Genetic Variants

Gene:R3HCC1L
Variant:p.P546S
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R3HCC1L

NM_001351015.2:p.P546S

Associated Papers

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Priest JR et al.

Plos Genetics, 2016

27058611 (PubMed )
Supplement: pgen.1005963.s011.pdf

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 › BC8_ERR166330
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