Publications:

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: SLC4A11: 334C>T; R112*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

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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: SLC4A11: 334C>T

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.

Molecular Vision

Kodaganur, Srinivas Gopinath SG; Kapoor, Saketh S; Veerappa, Avinash M AM; Tontanahal, Sagar Jagannath SJ; Sarda, Astha A; Yathish, S S; Prakash, D Ravi DR; Kumar, Arun A

Publication Date: 2013

Variant appearance in text: SLC4A11: 334C>T

PubMed Link: 23922488

Variant Present in the following documents:

• Main text
• mv-v19-1694.pdf

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Genetics of the corneal endothelial dystrophies: an evidence-based review.

Clinical Genetics

Aldave, A J AJ; Han, J J; Frausto, R F RF

Publication Date: 2013-08

Variant appearance in text: SLC4A11: 334C>T

PubMed Link: 23662738

Variant Present in the following documents:

• Main text

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The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: SLC4A11: 334C>T

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

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