Varaico: Literature-Extracted Genetic Variants

Gene:GRHPR
Variant:p.R96Splc
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GRHPR

NM_012203.2:p.R96Splc

Associated Papers

Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.

Konkoľová J et al.

Bmc Medical Genetics, 2017

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M et al.

Genome Biology, 2016

27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM6_ESM.pdf
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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."