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Article

Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X).

Human mutation - 1 Jan 1995

Soda H, Yukizane S, Yoshida I, Aramaki S, Kato H

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Source

Identifiers

PMID: 7627193
DOI: 10.1002/humu.1380050415

Genes

TAT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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