Original article
Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications
Caracterización de variantes recurrentes de UMOD (p.C255Y y p.Q316P) en una cohorte gallega: correlación genotipo-fenotipo e implicaciones clínicas
Eloísa Sánchez-Cazorlaa,b,c,1, Borja Temes-Álvarezc,d,1, Pilar Oliveros-Martínezc,e, Pedro Fortes-Gonzáleza,b,c, María García-Muriasa,b,c, Ana Barcia de la Iglesiaa,b,c, Noa Carreraa,b,c,
, Miguel Ángel García-Gonzáleza,b,c,
, Grupo GalERH ◊
a Group of Genetics and Developmental Biology of Renal Disease, Laboratory of Nephrology, No. 11, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital of Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain
b Genomic Medicine Group, Clinical University Hospital of Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain
c RICORS 2040 (Kidney Disease), ISCIII, Santiago de Compostela, Spain
d Nephrology service, Clinical University Hospital of Ourense (CHUOU), Ourense, Spain
e Nephrology service, Clinical University Hospital of Santiago de Compostela (CHUS), Santiago de Compostela, Spain
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