Publications:

Novel Gene Mutations Regulating Immune Responses in Autoimmune Polyglandular Syndrome With an Atypical Course.

Journal Of The Endocrine Society

Yukina, Marina M; Erofeeva, Taisia T; Nuralieva, Nurana N; Andreeva, Tatiana T; Savvateeva, Elena E; Dudko, Natalia N; Troshina, Ekaterina E; Rogaev, Evgeny E; Melnichenko, Galina G

Publication Date: 2021-08-01

Variant appearance in text: rs61740705

PubMed Link: 34235359

Variant Present in the following documents:

• Main text

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs61740705

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs61740705

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 1
• pone.0123569.s008.xls, sheet 5

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs61740705

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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