Publications:

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs741968

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: RET: 2137-324A>G; rs741968

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: RET: 2137-324A>G; rs741968

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.

Plos One

Kim, Jeong-Hyun JH; Cheong, Hyun Sub HS; Sul, Jae Hoon JH; Seo, Jeong-Meen JM; Kim, Dae-Yeon DY; Oh, Jung-Tak JT; Park, Kwi-Won KW; Kim, Hyun-Young HY; Jung, Soo-Min SM; Jung, Kyuwhan K; Cho, Min Jeng MJ; Bae, Joon Seol JS; Shin, Hyoung Doo HD

Publication Date: 2014

Variant appearance in text: rs741968

PubMed Link: 25310821

Variant Present in the following documents:

• Main text
• pone.0110292.pdf

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