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Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis

HADIA GUL; ABDUL HALEEM SHAH; RICARDO HARRIPAUL; SUMRA WAJID ABBASI; MUHAMMAD FAHEEM; MUHAMMAD ZUBAIR; MUHAMMAD MUZAMMAL; SAADULLAH KHAN; JOHN B. VINCENT; MUZAMMIL AHMAD KHAN
Journal of Genetics · Vol. 100, Issue 2 · 2021

Abstract

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Bibliographic Information

JournalJournal of Genetics
PublisherSpringer
Publication Date2021-10-01
Publication Year2021
Volume100
Issue2
Document TypeJournal Article
eISSN0973-7731
DOI10.1007/s12041-021-01310-5

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NARA Access Coverage1910-01-01~Current
Journal Homepagehttps://www.springer.com/journal/12041
Publisher PageOpen Publisher Page
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