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Safeer Ahmad
Safeer Ahmad
Gomal University
Genetics
Disease gene identification
Frameshift mutation
Biology
Mutation
3
Papers
1
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0
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A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
2021
Metabolic Brain Disease
Muhammad Muzammal
Muhammad Zeeshan Ali
Beatrice A. Brugger
Jasmin Blatterer
Safeer Ahmad
Sundas Taj
Syed Khizar Shah
Saadullah Khan
Christian Enzinger
Erwin Petek
Klaus Wagner
Muzammil Ahmad Khan
Christian Windpassinger
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Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.
2021
Annals of Human Genetics
Muhammad Muzammal
Safeer Ahmad
Muhammad Zeeshan Ali
Muzammil Ahmad Khan
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Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family
2020
Molecular Genetics & Genomic Medicine
Muhammad Ali
Jasmin Blatterer
M.A. Khan
Erich Schaflinger
Erwin Petek
Safeer Ahmad
Ejazullah Khan
Christian Windpassinger
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