Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.R888P
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PEX6

NM_000287.4:p.R888P

Associated Papers

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

Expanding the clinical and genetic spectrum of Heimler syndrome.

Gao FJ et al.

Orphanet Journal of Rare Diseases, 2019

31831025 (PubMed )
Supplement: 13023_2019_1243_MOESM5_ESM.pdf

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

Ebberink MS et al.

Human Mutation, 2010

A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.

Lee J et al.

Ear and Hearing, 0

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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."