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Article

A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.

BMC medical genetics - 13 Jun 2015

Norgett Elizabeth E, Yii Anthony, Blake-Palmer Katherine G, Sharifian Mostafa, Allen Louise E, Najafi Abdolhamid, Kariminejad Ariana, Karet Frankl Fiona E

Abstract excerpt

BACKGROUND: Distal Renal Tubular Acidosis is a disorder of acid-base regulation caused by functional failure of α-intercalated cells in the distal nephron. The recessive form of the disease (which is usually associated with sensorineural deafness) is attributable to mutations in ATP6V1B1 or ATP6V...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 2

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Source

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Identifiers

PMID: 26068435
DOI: 10.1186/s12881-015-0182-1
PMCID: PMC4630852

Genes

VAX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26068435-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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