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UnknownWhole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa.
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S-EPMC8369263 | biostudies-literature
UnknownThe Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3).
Not available
S-EPMC9778410 | biostudies-literature
UnknownAutosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.
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S-EPMC10249782 | biostudies-literature
UnknownStructural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.
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S-EPMC10548666 | biostudies-literature
UnknownDeleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.
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S-EPMC6862269 | biostudies-literature
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