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Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source.

European journal of medical genetics - 1 Apr 2018

Qasim Iqbal, Ahmad Bilal, Khan Muzammil Ahmad, Khan Niamatullah, Muhammad Noor, Basit Sulman, Khan Saadullah

Abstract excerpt

The development and advancement of next generation sequencing have not only sped up the process of identifying rare variants, but have also enabled scientists to explore all variants in a single individual. The Pakistani population has a high ratio of first degree consanguinity, which is why it is a rich source for various kinds of genetic disorders. Due to the heterogeneous composition of Pakistani population,...

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PMID: 29223505
DOI: 10.1016/j.ejmg.2017.11.015

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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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