Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.P784S
Back to variants list

REST

NM_005612.5:p.P784S

Associated Papers

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.

Redfield SE et al.

Human Genetics, 2024

38459354 (PubMed )
Supplement: 439_2024_2649_MOESM1_ESM.docx

PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss.

Redfield SE et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37873491 (PubMed )
Supplement: media-1.docx
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."