Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.R9Q
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PRPH

NM_006262.4:p.R9Q

Associated Papers

A novel dual histone mark reader ZCWPW2 regulates meiotic recombination through lactylation and transcriptional regulation in humans and mice.

Ruan T et al.

Nucleic Acids Research, 2026

41574437 (PubMed )
Supplement: gkag049_supplemental_files.zip › Table_S6.xlsx › Table_S6

A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum.

Mentis AA et al.

Cold Spring Harbor Molecular Case Studies, 2022

34535505 (PubMed )
Supplement: supp_mcs.a006096_Supplemental_Material.docx

Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.

Kim YW et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

33576571 (PubMed )
Supplement: ALZ-17-831-s002.xlsx › Table_S7

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S et al.

Brain : a Journal of Neurology, 2017

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M et al.

Genome Biology, 2016

27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM3_ESM.pdf

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

Morgan S et al.

Neurobiology of Aging, 2015

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf

A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.

Corrado L et al.

Neurobiology of Aging, 2011

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.

Gros-Louis F et al.

The Journal of Biological Chemistry, 2004

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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."