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Article

A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.

Journal of human genetics - 1 May 2020

Pastore Stephen, Harripaul Ricardo, Azam Matloob, Vincent John B

Abstract excerpt

Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare, recessively inherited neurological condition frequently involving insensitivity to pain. The subtype, HSAN2A, results from mutations in the gene WNK1. We identified a consanguineous Pakistani family with three affecteds showing symptoms of HSANII. We performed microarray genotyping, followed by homozygosity-by-descent (HBD) mapping, which...

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Identifiers

PMID: 32127623
DOI: 10.1038/s10038-020-0734-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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