Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF1
Variant:p.R217Q
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RHBDF1

NM_022450.5:p.R217Q

Associated Papers

Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration.

Narta K et al.

Genes, 2023

36833422 (PubMed )
Supplement: genes-14-00495-s001.zip › Narta_et_al_Supplementary_Tables.xlsx › Table_S4_SNVs

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600
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