gene sequence variant
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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

Frontiers in Genetics ◽

10.3389/fgene.2020.00798 ◽

2020 ◽

Vol 11 ◽

Author(s):

Bryony A. Thompson ◽

Rhiannon Walters ◽

Michael T. Parsons ◽

Troy Dumenil ◽

Mark Drost ◽

...

Keyword(s):

Mismatch Repair ◽

Gene Sequence ◽

Mrna Splicing ◽

Mismatch Repair Gene ◽

Sequence Variant ◽

Variant Interpretation ◽

Repair Gene ◽

Gene Sequence Variant

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Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

Genes ◽

10.3390/genes6020150 ◽

2015 ◽

Vol 6 (2) ◽

pp. 150-162 ◽

Cited By ~ 6

Author(s):

Bryony Thompson ◽

Amanda Spurdle

Keyword(s):

Microsatellite Instability ◽

Mismatch Repair ◽

Gene Sequence ◽

Mismatch Repair Gene ◽

Sequence Variant ◽

Variant Classification ◽

Repair Gene ◽

Gene Sequence Variant

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Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism

BMC Endocrine Disorders ◽

10.1186/1472-6823-14-69 ◽

2014 ◽

Vol 14 (1) ◽

Cited By ~ 5

Author(s):

Monica Vincenzi ◽

Marta Camilot ◽

Eleonora Ferrarini ◽

Francesca Teofoli ◽

Giacomo Venturi ◽

...

Keyword(s):

Congenital Hypothyroidism ◽

Subclinical Hypothyroidism ◽

Gene Sequence ◽

Sequence Variant ◽

Pax8 Gene ◽

Gene Sequence Variant

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Gene Sequence Variant Linked to Restless Legs Syndrome

Clinical Neurology News ◽

10.1016/s1553-3212(08)70074-8 ◽

2008 ◽

Vol 4 (2) ◽

pp. 15

Author(s):

MARY ANN MOON

Keyword(s):

Restless Legs Syndrome ◽

Gene Sequence ◽

Sequence Variant ◽

Restless Legs ◽

Gene Sequence Variant

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