Publications:

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs12252199

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.

Orphanet Journal Of Rare Diseases

Giraud, Sophie S; Bardel, Claire C; Dupuis-Girod, Sophie S; Carette, Marie-France MF; Gilbert-Dussardier, Brigitte B; Riviere, Sophie S; Saurin, Jean-Christophe JC; Eyries, Mélanie M; Patri, Sylvie S; Decullier, Evelyne E; Calender, Alain A; Lesca, Gaëtan G

Publication Date: 2020-09-22

Variant appearance in text: rs12252199

PubMed Link: 32962750

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1533.pdf

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Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies.

Journal Of Clinical Medicine

Pope, Daniel H DH; Davies, Benjamin M BM; Mowforth, Oliver D OD; Bowden, A Ramsay AR; Kotter, Mark R N MRN

Publication Date: 2020-01-20

Variant appearance in text: rs12252199

PubMed Link: 31968564

Variant Present in the following documents:

• Main text
• jcm-09-00282.pdf

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Association of a BMP9 haplotype with ossification of the posterior longitudinal ligament (OPLL) in a Chinese population.

Plos One

Ren, Yuan Y; Liu, Zhi-zhong ZZ; Feng, Jie J; Wan, Hong H; Li, Jun-hua JH; Wang, Hao H; Lin, Xin X

Publication Date: 2012

Variant appearance in text: rs12252199

PubMed Link: 22829878

Variant Present in the following documents:

• Main text
• pone.0040587.pdf

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