All individuals with variants in gene GRB10

5 entries on 1 page. Showing entries 1 - 5.
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Age at death     

VIP     

Data_av     

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Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00080069 10987657-FamPatLB PubMed: Joyce 1999, PubMed: Monk 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium daughter of TB F - United Kingdom (Great Britain) - - - - - ?, SRS;RSS prominent forehead (HP:0011220) 1 1 Zeynep Tümer
00080070 10987657-FamPatTB PubMed: Joyce 1999, PubMed: Monk 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium 2-generation family, affected mother/Daughter, mother of patient LB F - United Kingdom (Great Britain) - - - - - ?, SRS;RSS - 1 2 Zeynep Tümer
00080073 10631135-PatDP, 11829489-Pat4 PubMed: Monk 2000, PubMed: Monk 2002, PubMed: Nakabayashi 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium - F - - - - - - - ?, SRS;RSS - 1 1 Zeynep Tümer
00441589 CIC5281 PubMed: Boucher 2020 control - - France - - - - - Healthy/Control - 1 1 Johan den Dunnen
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