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: rs3219110

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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Circulating Adiponectin and Its Association with Metabolic Traits and Type 2 Diabetes: Gene-Diet Interactions Focusing on Selected Gene Variants and at the Genome-Wide Level in High-Cardiovascular Risk Mediterranean Subjects.

Nutrients

Coltell, Oscar O; Ortega-Azorín, Carolina C; Sorlí, Jose V JV; Portolés, Olga O; Asensio, Eva M EM; Saiz, Carmen C; Barragán, Rocío R; Estruch, Ramon R; Corella, Dolores D

Publication Date: 2021-02-07

Variant appearance in text: rs3219110

PubMed Link: 33562295

Variant Present in the following documents:

• Main text
• nutrients-13-00541.pdf

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Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking-related lung cancer.

Molecular Carcinogenesis

Buch, Shama C SC; Diergaarde, Brenda B; Nukui, Tomoko T; Day, Roger S RS; Siegfried, Jill M JM; Romkes, Marjorie M; Weissfeld, Joel L JL

Publication Date: 2012-10

Variant appearance in text: rs3219110

PubMed Link: 21976407

Variant Present in the following documents:

• Main text

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Association analysis of PARP1 polymorphisms with Parkinson's disease.

Parkinsonism & Related Disorders

Brighina, Laura L; Riva, Chiara C; Bertola, Francesca F; Fermi, Silvia S; Saracchi, Enrico E; Piolti, Roberto R; Goldwurm, Stefano S; Pezzoli, Gianni G; Ferrarese, Carlo C

Publication Date: 2011-11

Variant appearance in text: rs3219110

PubMed Link: 21767974

Variant Present in the following documents:

• Main text

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