Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S55Splc
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SLC26A4

NM_000441.2:p.S55Splc

Associated Papers

Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.

Liu Q et al.

Nature Communications, 2023

37230976 (PubMed )
Supplement: 41467_2023_38303_MOESM3_ESM.xlsx › SLC26A4.gvtable.9

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.

Teek R et al.

Advances in Medical Sciences, 2013

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D et al.

Frontiers in Bioscience (landmark Edition), 2012

Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.

Montanelli L et al.

Molecular and Cellular Endocrinology, 2010

Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.

Teek R et al.

International Journal of Pediatric Otorhinolaryngology, 2009

The responsible genes in Japanese deafness patients and clinical application using Invader assay.

Usami S et al.

Acta Oto-laryngologica, 2008

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.

Hutchin T et al.

Clinical Genetics, 2005

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

Tsukamoto K et al.

European Journal of Human Genetics : Ejhg, 2003

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

López-Bigas N et al.

Human Mutation, 2002

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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."