Publications:

Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.

European Journal Of Endocrinology

Saengkaew, Tansit T; Patel, Heena R HR; Banerjee, Kausik K; Butler, Gary G; Dattani, Mehul T MT; McGuigan, Michael M; Storr, Helen L HL; Willemsen, Ruben H RH; Dunkel, Leo L; Howard, Sasha R SR

Publication Date: 2021-10-08

Variant appearance in text: HR: 317A>G

PubMed Link: 34403359

Variant Present in the following documents:

• supplementary_table_1.pdf
• EJE-21-0387.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: HR: 317A>G

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page