Publications:

CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago.

Frontiers In Genetics

Ma, Yan Y; Wang, Xun X; Shoshany, Nadav N; Jiao, Xiaodong X; Lee, Adrian A; Ku, Gregory G; Baple, Emma L EL; Fasham, James J; Nadeem, Raheela R; Naeem, Muhammad Asif MA; Riazuddin, Sheikh S; Riazuddin, S Amer SA; Crosby, Andrew H AH; Hejtmancik, J Fielding JF

Publication Date: 2022

Variant appearance in text: rs12037569

PubMed Link: 35391798

Variant Present in the following documents:

• Main text
• fgene-13-804924.pdf

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A Genetic Variant of the Sortilin 1 Gene is Associated with Reduced Risk of Alzheimer's Disease.

Journal Of Alzheimer'S Disease : Jad

Andersson, Carl-Henrik CH; Hansson, Oskar O; Minthon, Lennart L; Andreasen, Niels N; Blennow, Kaj K; Zetterberg, Henrik H; Skoog, Ingmar I; Wallin, Anders A; Nilsson, Staffan S; Kettunen, Petronella P

Publication Date: 2016-07-01

Variant appearance in text: rs12037569

PubMed Link: 27392867

Variant Present in the following documents:

• Main text
• jad-53-jad160319.pdf

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Increased serum levels of sortilin are associated with depression and correlated with BDNF and VEGF.

Translational Psychiatry

Buttenschøn, H N HN; Demontis, D D; Kaas, M M; Elfving, B B; Mølgaard, S S; Gustafsen, C C; Kaerlev, L L; Petersen, C M CM; Børglum, A D AD; Mors, O O; Glerup, S S

Publication Date: 2015-11-10

Variant appearance in text: rs12037569

PubMed Link: 26556286

Variant Present in the following documents:

• Main text
• tp2015167a.pdf

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