Varaico: Literature-Extracted Genetic Variants

Gene:GRPEL1
Variant:p.G37D
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GRPEL1

NM_025196.4:p.G37D

Associated Papers

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_4

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.

Yan J et al.

Journal of Human Genetics, 2013

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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."